ClinVar Miner

List of variants in gene HNF1A reported as benign for maturity-onset diabetes of the young

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000545.8(HNF1A):c.1623+29T>C rs1169304 0.75160
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.326+91A>G rs2244608 0.28699
NM_000545.8(HNF1A):c.327-42G>A rs1169294 0.28559
NM_000545.8(HNF1A):c.327-158C>T rs1169292 0.27502
NM_000545.8(HNF1A):c.527-23C>T rs1169301 0.26300
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.864G>C (p.Gly288=) rs56348580 0.25042
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000545.8(HNF1A):c.1501+68A>G rs55919842 0.02520
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000545.8(HNF1A):c.326+241T>C rs575098936 0.00832
NM_000545.8(HNF1A):c.326+20C>A rs80051981 0.00772
NM_000545.8(HNF1A):c.1309+52C>T rs56031130 0.00583
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_000545.8(HNF1A):c.155G>C (p.Gly52Ala) rs142318174 0.00083
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
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.210C>T (p.Ser70=) rs146686581 0.00061
NM_000545.8(HNF1A):c.1502-7C>T rs193922581 0.00046
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.1501+6C>T rs374306837 0.00035
NC_000012.12:g.120978302C>T rs1039479235 0.00029
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.1623+23C>T rs201167179 0.00019
NM_000545.8(HNF1A):c.1624-30C>T rs563879035 0.00019
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.1624-19G>A rs193922586 0.00011
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_000545.8(HNF1A):c.1309+247G>A rs587777934 0.00008
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_000545.8(HNF1A):c.1624-29G>A rs532689884 0.00005
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.527-18G>A rs375259151 0.00004
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.900C>T (p.Pro300=) rs762555237 0.00003
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.978G>A (p.Ala326=) rs200351196 0.00002
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001
NM_000545.8(HNF1A):c.1309+238G>A rs564888406 0.00001
NM_000545.8(HNF1A):c.1623+20G>A rs1012229716 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.246G>A (p.Thr82=) rs752243228 0.00001
NM_000545.8(HNF1A):c.537T>C (p.His179=) rs765329757 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.894G>A (p.Ala298=) rs951696015 0.00001
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1309+184dup rs201039488
NM_000545.8(HNF1A):c.1309+86TCAT[6] rs58371019
NM_000545.8(HNF1A):c.1309+86TCAT[8] rs58371019
NM_000545.8(HNF1A):c.1494C>T (p.Ser498=) rs138145827
NM_000545.8(HNF1A):c.1623+16G>A rs1555212572
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.1768+65del rs193922590
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.60G>T (p.Gly20=) rs1449504165
NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu) rs267603343
NM_000545.8(HNF1A):c.870C>T (p.Pro290=) rs779008957

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