ClinVar Miner

List of variants reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 106
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HGVS dbSNP
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000088.3(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000094.3(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC):c.388_400del (p.Met130fs) rs1567705064
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) rs1555384318
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.160G>T (p.Val54Leu) rs121908302
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000268.4(NF2):c.863C>G (p.Ser288Ter)
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000377.3(WAS):c.1266_1267insG rs1557007312
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051
NM_000492.3(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.459+5G>A rs762060470
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.672+30T>G rs117160567
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.805+1G>C rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs) rs879253767
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001072.4(UGT1A6):c.862-6394dup rs748219743
NM_001079823.2(LAMA2):c.4959+1del
NM_001080463.1(DYNC2H1):c.[5053G>A];[7784A>G]
NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln) rs1057520918
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_001278064.2(GRM1):c.26dup (p.Ala11fs) rs758809498
NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) rs1569356968
NM_001374258.1(BRAF):c.1526G>A (p.Gly509Glu) rs121913355
NM_001399.5(EDA):c.686dup (p.Gly230fs)
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875
NM_004006.3(DMD):c.6615-2A>G
NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.[2086G>A];[385C>T]
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006432.4(NPC2):c.82+2T>C rs879253740
NM_014297.5(ETHE1):c.505+1G>C rs935855792
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_019098.4(CNGB3):c.1781+1G>T
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024884.3(L2HGDH):c.256+1G>A rs150299874
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_033305.3(VPS13A):c.555+1G>A
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_152416.3(NDUFAF6):c.[328G>T];[611C>T]
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) rs1567782714

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