ClinVar Miner

List of variants reported as likely benign for autosomal dominant polycystic liver disease by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001079539.2(XBP1):c.12_14dup (p.Ala7dup) rs528996789 0.00908
NM_001079539.2(XBP1):c.44C>T (p.Pro15Leu) rs570172086 0.00317
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_002336.3(LRP6):c.3130G>A (p.Asp1044Asn) rs140182370 0.00034
NM_001789.3(CDC25A):c.968A>G (p.Lys323Arg) rs202026442 0.00014
NM_002335.4(LRP5):c.2724C>G (p.His908Gln) rs143539498 0.00011
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His) rs772219802 0.00009
NM_001789.3(CDC25A):c.1124A>G (p.Asn375Ser) rs565583599 0.00004
NM_002335.4(LRP5):c.1948A>G (p.Thr650Ala) rs756999448 0.00001
NM_002335.4(LRP5):c.4402G>A (p.Gly1468Ser) rs764802790 0.00001
NM_138694.4(PKHD1):c.422A>G (p.Gln141Arg) rs202133636 0.00001
NM_138694.4(PKHD1):c.8231G>A (p.Gly2744Asp) rs1466429790 0.00001
NM_000268.4(NF2):c.204C>G (p.Ile68Met) rs747447569
NM_000297.4(PKD2):c.620A>G (p.Glu207Gly) rs2110089221
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_001079539.2(XBP1):c.95C>T (p.Ala32Val) rs1394430611
NM_001289104.2(PRKCSH):c.362G>T (p.Arg121Leu) rs377537927
NM_001289104.2(PRKCSH):c.781A>T (p.Thr261Ser) rs1156928058
NM_001904.4(CTNNB1):c.2317C>A (p.Gln773Lys) rs779955747
NM_002335.4(LRP5):c.3916G>T (p.Ala1306Ser) rs748395267
NM_002336.3(LRP6):c.3025A>G (p.Ser1009Gly) rs2136915109
NM_018144.4(SEC61A2):c.508C>A (p.Gln170Lys) rs2131675164
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp) rs756792624
NM_138694.4(PKHD1):c.12076C>G (p.Gln4026Glu) rs780097121
NM_138694.4(PKHD1):c.3310T>G (p.Ser1104Ala) rs1803317608
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn) rs370659581

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