ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by MGZ Medical Genetics Center

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_006269.2(RP1):c.1726G>A (p.Val576Met) rs201008674 0.00007
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu) rs755528865 0.00004
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_004172.5(SLC1A3):c.1397C>T (p.Thr466Met) rs763798684 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) rs763383858 0.00001
NM_000026.4(ADSL):c.449C>G (p.Ala150Gly)
NM_000161.3(GCH1):c.626+1G>T rs1555358507
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.478G>T (p.Val160Phe)
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)
NM_001010898.4(SLC6A17):c.351G>T (p.Glu117Asp)
NM_001010898.4(SLC6A17):c.374G>A (p.Arg125His)
NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter)
NM_001080442.3(SLC38A8):c.682G>C (p.Gly228Arg)
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys)
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001142800.2(EYS):c.4306dup (p.Ile1436fs)
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
NM_001875.5(CPS1):c.2713A>T (p.Lys905Ter)
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_003322.6(TULP1):c.162dup (p.Thr55fs)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp) rs1421981152
NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp) rs1649473972
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) rs1984233764
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter)
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp) rs786204026
NM_005957.5(MTHFR):c.264_302dup (p.Leu89_Pro101dup) rs786204010
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln)
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.452T>A (p.Met151Lys)
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_201253.3(CRB1):c.330del (p.Ile111fs)

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