ClinVar Miner

List of variants reported as uncertain significance for Renal cysts and diabetes syndrome

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.*625C>T rs188957129 0.00154
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000458.4(HNF1B):c.*691A>G rs751817675 0.00064
NM_000458.4(HNF1B):c.*445A>G rs571607314 0.00029
NM_000458.4(HNF1B):c.*629C>T rs566057658 0.00026
NM_000458.4(HNF1B):c.-82G>T rs886052892 0.00013
NM_000458.4(HNF1B):c.*701G>A rs886052888 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.9C>T (p.Ser3=) rs773256244 0.00003
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro) rs781489326 0.00001
NM_000458.4(HNF1B):c.*789T>C rs886052887 0.00001
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) rs772315985 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000458.4(HNF1B):c.*409A>G rs2031989734
NM_000458.4(HNF1B):c.*585T>C rs886052889
NM_000458.4(HNF1B):c.-14dup rs193922481
NM_000458.4(HNF1B):c.-36del rs756559188
NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe) rs776928989
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg) rs982085453
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) rs886052891
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val) rs2032548578
NM_000458.4(HNF1B):c.150T>G (p.Pro50=) rs2034119944
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
NM_000458.4(HNF1B):c.1654-11T>C rs193922484
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.4(HNF1B):c.1654-14CT[4] rs886052890
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.309G>C (p.Ala103=) rs1197263675
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
NM_000458.4(HNF1B):c.438C>T (p.Asn146=) rs2033930573
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn) rs1568670646
NM_000458.4(HNF1B):c.477T>C (p.Pro159=) rs1212716750
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg)
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) rs377555356
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.908G>A (p.Arg303His) rs2033692404
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) rs988279557
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys) rs140892695

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