ClinVar Miner

List of variants studied for amino acid metabolism disease by Mendelics

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 502
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31956
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_201548.5(CERKL):c.895+3A>G rs12623687 0.13988
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635 0.04692
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys) rs2229152 0.00516
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00342
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941 0.00284
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887 0.00012
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_003937.3(KYNU):c.773T>C (p.Val258Ala) rs376794557 0.00011
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr) rs1349879153 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) rs993963334 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_000045.4(ARG1):c.3G>A (p.Met1Ile) rs745624953 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln) rs767412828 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys) rs763645251 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) rs1341466471 0.00001
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) rs1595899559 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe) rs763075374 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181 0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) rs779997983 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) rs1326635278 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001375654.1(RP1):c.2212-1G>A rs997666144 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_002225.5(IVD):c.1206del (p.Ile402fs) rs1595797766 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro) rs1037527372 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006269.2(RP1):c.1265dup (p.Ala423fs) rs770659908 0.00001
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val) rs778383770 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_054012.4(ASS1):c.175-1119G>A rs1488840592 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter) rs1570891615
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly) rs2142985073
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1752-1G>A rs2142990593
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg) rs200788251
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del) rs1601596522
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter) rs747964752
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000026.4(ADSL):c.994G>C (p.Asp332His) rs776496275
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) rs1441486160
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) rs1451472748
NM_000045.4(ARG1):c.646_649del (p.Leu216fs) rs756080885
NM_000048.4(ASL):c.299T>A (p.Ile100Asn) rs202142867
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000137.4(FAH):c.1003_1004del (p.Val335fs) rs1595897345
NM_000137.4(FAH):c.61G>T (p.Val21Phe) rs2041065908
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) rs1595894742
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr) rs772654647
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys) rs1599619180
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg) rs2145944277
NM_000159.4(GCDH):c.671T>G (p.Val224Gly) rs1970675584
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu) rs1595031768
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.510-1G>T rs1555358604
NM_000161.3(GCH1):c.601G>T (p.Gly201Ter) rs2140041673
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2838+1G>A rs542056100
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) rs1592947538
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000281.4(PCBD1):c.272del (p.Asn91fs) rs1589483932
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del) rs2152478820
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000283.4(PDE6B):c.2021+2T>G rs1577301589
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter) rs970990957
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000320.3(QDPR):c.174del (p.Ser59fs) rs1577195951
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
NM_000353.3(TAT):c.707-2A>G rs1005382525
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) rs1590170978
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.815T>G (p.Leu272Arg) rs775410637
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter) rs1390479623
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) rs1581180469
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter) rs375659222
NM_000440.3(PDE6A):c.1838+1G>A rs2113558095
NM_000440.3(PDE6A):c.2064del (p.Lys689fs) rs1581164958
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.387-1G>A rs1602029522
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.77G>T (p.Arg26Leu) rs68031618
NM_000531.6(OTC):c.867G>A (p.Lys289=) rs72558456
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000539.3(RHO):c.1034T>C (p.Val345Ala) rs1578281706
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.317G>T (p.Gly106Val) rs1578278417
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.557C>G (p.Ser186Trp) rs371288618
NM_000539.3(RHO):c.937-2A>T rs1578281565
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val) rs2147455888
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_001012720.2(RGR):c.820del (p.Arg274fs) rs1589337745
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter) rs2147199519
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter) rs1601923813
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter) rs2147197584
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs) rs2147197113
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter) rs1601978823
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) rs2147190626
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs) rs2147190484
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001080.3(ALDH5A1):c.1014+60TG[6] rs199737070
NM_001080442.3(SLC38A8):c.388+1G>T rs149436446
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs) rs1583442540
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter) rs1391928253
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs) rs1583277585
NM_001142800.2(EYS):c.2981del (p.Pro994fs) rs1583260302
NM_001142800.2(EYS):c.4073del (p.Pro1358fs) rs2149832474
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs) rs2149831647
NM_001142800.2(EYS):c.5182del (p.Ser1728fs) rs1562079278
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) rs902462590
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) rs398123576
NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter) rs1582140331
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter) rs764362221
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001297.5(CNGB1):c.1122-2A>T rs1596997875
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_001379270.1(CNGA1):c.546-1G>C rs1037963003
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_001875.5(CPS1):c.1207del (p.Ala403fs) rs1574566578
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg) rs778766382
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter) rs1574567901
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly) rs1015051007
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala) rs1574632659
NM_001875.5(CPS1):c.345_351del (p.Gly116fs) rs2106079710
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro) rs1574646079
NM_001875.5(CPS1):c.3666+77dup rs61108700
NM_001875.5(CPS1):c.4275-2A>C rs2105945930
NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup) rs1594313040
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) rs776608445
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del) rs2124930894
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg) rs1064795290
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His) rs780314370
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) rs1580423432
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_004698.4(PRPF3):c.-48-2A>T rs782747350
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala) rs121909734
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.636+2_636+3insCT rs2126234552
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.980dup (p.Ser329fs) rs2148362976
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs) rs1246790145
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter) rs1585564369
NM_006343.3(MERTK):c.1296+1G>C rs774577413
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.992_993del (p.Ser331fs) rs1573613491
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) rs1597223220
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs) rs1597223214
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.727-8del rs112610475
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.158del (p.Leu53fs) rs1602347637
NM_006915.3(RP2):c.884-14G>A rs1602354996
NM_006915.3(RP2):c.932del (p.Cys311fs) rs1602355025
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr) rs1037019727
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) rs933842186
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) rs1477839027
NM_014049.5(ACAD9):c.808+63GT[14] rs63473460
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) rs1439576531
NM_015629.4(PRPF31):c.205del (p.Glu69fs) rs2146394096
NM_015629.4(PRPF31):c.322+1G>A rs1600335289
NM_015629.4(PRPF31):c.335del (p.Lys112fs) rs1600337158
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) rs1600324262
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.856-1G>A rs1600350656
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) rs1600324442
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_018706.7(DHTKD1):c.2154_2154+1insT rs1588616299
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr) rs1055578473
NM_024818.6(UBA5):c.1A>G (p.Met1Val) rs2107921941
NM_024818.6(UBA5):c.36_37del (p.Gln13fs) rs2107922089
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_033100.4(CDHR1):c.1782+1del rs1589307705
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe) rs1589309412
NM_033100.4(CDHR1):c.348+5G>T rs1412093692
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_058179.4(PSAT1):c.121+5G>A rs372232840
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser) rs779716988
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) rs1582275277

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