ClinVar Miner

List of variants reported as likely pathogenic by Division of Human Genetics,Children's Hospital of Philadelphia

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Total variants: 70
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HGVS dbSNP
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000404.4(GLB1):c.245+1G>A rs778423653
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000445.5(PLEC):c.1141C>T (p.Gln381Ter) rs1060499581
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001001547.3(CD36):c.1254+1G>A rs148051111
NM_001001547.3(CD36):c.429+2T>C rs3211893
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs) rs1555122100
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001128126.3(AP4S1):c.138+2T>G rs377679827
NM_001128425.1(MUTYH):c.1229_1230dup (p.Pro411fs) rs1553125914
NM_001128840.3(CACNA1D):c.1220+678G>A rs386834264
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp) rs1060499583
NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) rs554847663
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) rs1553509010
NM_002016.1(FLG):c.899_903del (p.Asp300fs) rs1060499587
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004369.3(COL6A3):c.7669-2del rs764193290
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) rs1060499595
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_014251.3(SLC25A13):c.468+1G>C rs1060499612
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_018451.5(CENPJ):c.3367-1G>A rs763715733
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) rs1060499588
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588
NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_152443.3(RDH12):c.59_62CATC[1] (p.Ile22fs) rs794729650
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051

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