ClinVar Miner

List of variants reported as likely pathogenic for none provided

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ClinVar version:
Total variants: 121
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HGVS dbSNP
G6PD NARA rs587776730
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000051.3(ATM):c.7089+2T>G rs1057516235
NM_000052.7(ATP7A):c.2406G>C (p.Lys802Asn)
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val)
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala)
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp)
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg)
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg)
NM_000088.4(COL1A1):c.400dup (p.Ile134fs)
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
NM_000089.4(COL1A2):c.3116G>A (p.Gly1039Asp)
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.4(COL3A1):c.1663-1G>A
NM_000133.4(F9):c.1229A>T (p.Asp410Val)
NM_000133.4(F9):c.235G>A (p.Glu79Lys)
NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.4(FBN1):c.8226+5G>A rs193922243
NM_000138.5(FBN1):c.198C>A (p.Tyr66Ter)
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)
NM_000138.5(FBN1):c.2293G>A (p.Asp765Asn)
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser)
NM_000193.4(SHH):c.1085C>T (p.Ser362Leu)
NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) rs1599874183
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000244.3(MEN1):c.1397_1404dup (p.Ala469fs) rs1114167531
NM_000244.3(MEN1):c.737G>A (p.Cys246Tyr) rs794728624
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000371.3(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys)
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys)
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
NM_000492.3(CFTR):c.476T>C (p.Leu159Ser) rs397508727
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834
NM_000517.6(HBA2):c.242T>G (p.Leu81Arg)
NM_000517.6(HBA2):c.91_93del (p.Glu31del) rs281864560
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) rs33948578
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) rs63750928
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000535.7(PMS2):c.1144+1G>A rs373885654
NM_000540.3(RYR1):c.424+2T>C
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe)
NM_000552.4(VWF):c.4195C>T (p.Arg1399Cys) rs61750077
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000891.3(KCNJ2):c.637C>G (p.Arg213Gly)
NM_000942.5(PPIB):c.344-1G>T
NM_001040142.2(SCN2A):c.3399+1G>A
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001151.4(SLC25A4):c.256_263del (p.Ala86fs)
NM_001204.7(BMPR2):c.12del (p.Leu5fs)
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.270dup (p.Pro91fs) rs1574464056
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001267550.2(TTN):c.68149del (p.Arg22717fs)
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter)
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)
NM_001374258.1(BRAF):c.1511G>T (p.Gly504Val) rs121913348
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) rs786205477
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu)
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp)
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
NM_003002.4(SDHD):c.340T>G (p.Tyr114Asp)
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.3(DMD):c.44del (p.Asp15fs)
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_006087.4(TUBB4A):c.1178C>T (p.Ala393Val)
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_015335.5(MED13L):c.4338+5G>A
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs)
NM_025132.4(WDR19):c.1778-1G>A
NM_032415.6(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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