ClinVar Miner

List of variants in gene HNF1A reported as likely benign for autoimmune disease

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000545.5(HNF1A):c.-347G>A rs76729898 0.00231
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_000545.8(HNF1A):c.-29G>A rs376961226 0.00108
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val) rs201934320 0.00013
NM_000545.8(HNF1A):c.1624-19G>A rs193922586 0.00011
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_000545.8(HNF1A):c.1502-14T>C rs765596650 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.1624-15G>A rs193922585 0.00004
NM_000545.8(HNF1A):c.527-18G>A rs375259151 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000545.8(HNF1A):c.900C>T (p.Pro300=) rs762555237 0.00003
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.1623+20G>A rs1012229716 0.00001
NM_000545.8(HNF1A):c.246G>A (p.Thr82=) rs752243228 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1107+6T>C
NM_000545.8(HNF1A):c.1108G>T (p.Val370Phe) rs2135845768
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.126C>T (p.Gly42=)
NM_000545.8(HNF1A):c.1309+16T>C
NM_000545.8(HNF1A):c.1341G>A (p.Pro447=)
NM_000545.8(HNF1A):c.1501+10C>T
NM_000545.8(HNF1A):c.1548C>T (p.Gly516=) rs886038346
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1623+16G>A rs1555212572
NM_000545.8(HNF1A):c.1623+18T>C
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.1689C>G (p.Thr563=)
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.1720_1721delinsGA (p.Ser574Asp)
NM_000545.8(HNF1A):c.1761C>T (p.Ser587=) rs2135851686
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.402C>T (p.Val134=)
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_000545.8(HNF1A):c.717G>A (p.Ala239=)
NM_000545.8(HNF1A):c.840G>A (p.Lys280=) rs1876974758
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606

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