ClinVar Miner

List of variants reported as likely pathogenic for Renal cysts and diabetes syndrome by Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg

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Total variants: 57
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HGVS dbSNP
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr) rs193922482
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn) rs193922487
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg) rs193922490
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
NM_000458.4(HNF1B):c.544+3_544+4insT
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp) rs193922491
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro) rs529294719
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser) rs914046953
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)

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