ClinVar Miner

List of variants reported as likely pathogenic by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 309
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HGVS dbSNP
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000059.3(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=) rs200972872
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000110.3(DPYD):c.2622+1G>A rs1057517095
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000179.2(MSH6):c.3801+1G>T rs876660943
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000228.3(LAMB3):c.1288+1G>T rs1186161867
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) rs778878523
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148
NM_000339.3(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_000339.3(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000339.3(SLC12A3):c.2965G>A (p.Gly989Arg)
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.5(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000364.4(TNNT2):c.833A>T (p.Asn278Ile) rs863225119
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000383.4(AIRE):c.652+1G>T rs199612115
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000426.3(LAMA2):c.8244+1G>A rs749522728
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000455.4(STK11):c.719C>G (p.Ser240Trp) rs730881976
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) rs34993780
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln) rs201727231
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001257988.1(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151
NM_001286734.2(CENPE):c.2722G>A (p.Asp908Asn) rs144716013
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001356.4(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001364171.2(CCDC114):c.1502+5G>A rs201133219
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001958.4(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002437.5(MPV17):c.408+1G>A rs749361266
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002734.4(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004817.4(TJP2):c.1056+2T>C rs1278244243
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_013328.4(PYCR2):c.356G>A (p.Arg119His) rs149587849
NM_014191.4(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014585.5(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015346.4(ZFYVE26):c.5321-2A>G rs1555395560
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016434.3(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017890.4(VPS13B):c.3870+1G>T rs764225649
NM_017890.4(VPS13B):c.7322+2T>C rs1563908020
NM_018082.6(POLR3B):c.1263+2T>C rs774526181
NM_018297.4(NGLY1):c.1150-1G>C rs532007026
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_019023.4(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019109.4(ALG1):c.1187+3A>G rs369160589
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020365.5(EIF2B3):c.272G>A (p.Arg91His) rs141988913
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_024022.3(TMPRSS3):c.1276G>A (p.Ala426Thr) rs56264519
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024596.5(MCPH1):c.1974-2A>G rs541042265
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_058216.3(RAD51C):c.404+2T>C rs730881931
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.603-2A>G rs757521428
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_144696.6(AXDND1):c.3032-1904C>T rs200482683
NM_144997.7(FLCN):c.779+1G>T rs758175953
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_152328.4(ADSS1):c.781G>A (p.Asp261Asn) rs140614802
NM_152384.3(BBS5):c.143-1G>C
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_153700.2(STRC):c.4219-1G>A rs748854592
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153767.3(KCNJ1):c.955C>T (p.Arg319Ter) rs377205432
NM_172057.2(KCNH2):c.23C>T (p.Ala8Val) rs972201049
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269
NM_174917.5(ACSF3):c.1405C>T (p.Arg469Ter)
NM_177438.2(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_194248.2(OTOF):c.5193-1G>A rs111033373
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_199292.3(TH):c.405+1G>A rs1554923802
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NR_003051.3(RMRP):n.64C>T rs786204684

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