ClinVar Miner

List of variants in gene HNF1B reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) rs199572129 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.1008C>T (p.His336=) rs150268130 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000458.4(HNF1B):c.1057A>G (p.Ser353Gly) rs753847783 0.00001
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1414G>A (p.Val472Ile) rs762841746 0.00001
NM_000458.4(HNF1B):c.1591G>C (p.Ala531Pro) rs752480540 0.00001
NM_000458.4(HNF1B):c.430G>A (p.Gly144Ser) rs374126219 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000458.4(HNF1B):c.974G>A (p.Ser325Asn) rs794727624 0.00001
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1058G>C (p.Ser353Thr) rs1568645763
NM_000458.4(HNF1B):c.1085C>T (p.Ser362Phe) rs1024639436
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.1116C>A (p.Ser372Arg) rs775094591
NM_000458.4(HNF1B):c.1336C>G (p.Gln446Glu) rs1568641291
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) rs776536485
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1396C>G (p.Leu466Val) rs1555821665
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=) rs1568636744
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.1663C>A (p.Gln555Lys) rs886044437
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.254A>G (p.Asp85Gly) rs984116301
NM_000458.4(HNF1B):c.298A>G (p.Thr100Ala) rs1568675935
NM_000458.4(HNF1B):c.300C>T (p.Thr100=) rs369134247
NM_000458.4(HNF1B):c.325G>A (p.Glu109Lys) rs757044850
NM_000458.4(HNF1B):c.339G>A (p.Met113Ile) rs764079701
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.364G>A (p.Ala122Thr) rs1568670778
NM_000458.4(HNF1B):c.402C>T (p.Ile134=) rs1555831433
NM_000458.4(HNF1B):c.473C>T (p.Thr158Ile) rs1568670646
NM_000458.4(HNF1B):c.479T>G (p.Met160Arg) rs886043903
NM_000458.4(HNF1B):c.819T>C (p.Cys273=) rs1568664272
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)

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