ClinVar Miner

List of variants reported as not provided by Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center

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Total variants: 12
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HGVS dbSNP
NM_001009944.2(PKD1):c.11554delC (p.Leu3852Trpfs) rs724159823
NM_001009944.2(PKD1):c.1281_1283delGGC (p.Ala428del) rs724159824
NM_001009944.2(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.2(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_002335.2(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560
NM_002335.3(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.3(LRP5):c.1680G>T (p.Trp560Cys) rs377144001
NM_002335.3(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225
NM_002335.3(LRP5):c.3468G>C (p.Gln1156His) rs724159825
NM_002335.3(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.3(LRP5):c.4587G>C (p.Arg1529Ser) rs724159826
NM_002335.3(LRP5):c.4651G>A (p.Asp1551Asn) rs724159827

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