ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001789.3(CDC25A):c.263C>T (p.Ser88Phe) rs3731499 0.00012
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861 0.00006
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met) rs541552030 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_175914.5(HNF4A):c.50-3462C>T rs757731931 0.00003
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met) rs748496650 0.00002
NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys) rs201778105 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001289104.2(PRKCSH):c.188A>C (p.Asp63Ala) rs1969752491 0.00001
NM_001289104.2(PRKCSH):c.76_79+4dup rs1969723330 0.00001
NM_001904.4(CTNNB1):c.2189G>A (p.Gly730Asp) rs2078513943 0.00001
NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser) rs1250269841 0.00001
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys) rs2110112018
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu) rs2110134005
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu) rs2110107072
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys) rs2151698069
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His) rs2151697614
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro) rs2151826530
NM_001009944.3(PKD1):c.359+3A>T rs2151826018
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala) rs2092501507
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser) rs1567218351
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp) rs761060813
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly) rs1596513913
NM_001018057.2(DKK3):c.1006dup (p.Glu336fs) rs2134978784
NM_001289104.2(PRKCSH):c.1462-1G>T rs879147040
NM_001289104.2(PRKCSH):c.228C>G (p.His76Gln) rs2144807765
NM_001289104.2(PRKCSH):c.464A>G (p.Lys155Arg) rs2144822186
NM_001904.4(CTNNB1):c.1456C>T (p.Arg486Cys) rs113411271
NM_002335.4(LRP5):c.1136A>C (p.Asp379Ala) rs2153153124
NM_002336.3(LRP6):c.458A>G (p.Tyr153Cys) rs2137042982
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro) rs1787041288
NM_007214.5(SEC63):c.1629G>C (p.Gln543His) rs2114426916
NM_007214.5(SEC63):c.359T>C (p.Ile120Thr) rs2114476499
NM_007214.5(SEC63):c.502G>C (p.Asp168His) rs2114461992
NM_007214.5(SEC63):c.622G>C (p.Val208Leu) rs2114458613
NM_007214.5(SEC63):c.646A>G (p.Ile216Val) rs2114454091
NM_013336.4(SEC61A1):c.706C>T (p.Arg236Cys) rs2107647591
NM_024079.5(ALG8):c.460G>A (p.Gly154Arg)
NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu) rs2150413999
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) rs786204696
NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val) rs2128144126
NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr) rs1775373904
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys) rs1565093675
NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly) rs1565092566
NM_198334.3(GANAB):c.38G>A (p.Arg13Gln) rs1565116806

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