ClinVar Miner

List of variants in gene HNF1A reported by PreventionGenetics, part of Exact Sciences

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Total variants: 63
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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.864G>C (p.Gly288=) rs56348580 0.25042
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000545.8(HNF1A):c.1720= (p.Ser574=) rs1169305 0.01390
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_000545.8(HNF1A):c.1704C>T (p.Pro568=) rs148520816 0.00103
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_000545.8(HNF1A):c.-89T>C rs767550584 0.00074
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
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.-96T>G rs576862555 0.00013
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.-181G>A rs980850048 0.00007
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_000545.8(HNF1A):c.1502-14T>C rs765596650 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.264G>A (p.Glu88=) rs201223431 0.00002
NM_000545.8(HNF1A):c.-218T>C rs1024131753 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) rs757574765 0.00001
NM_000545.8(HNF1A):c.1042C>T (p.Leu348Phe)
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1156C>T (p.Leu386=)
NM_000545.8(HNF1A):c.1302G>C (p.Leu434=)
NM_000545.8(HNF1A):c.1308C>T (p.Ile436=)
NM_000545.8(HNF1A):c.1335T>C (p.Ser445=)
NM_000545.8(HNF1A):c.1364_1368del (p.Ser455fs)
NM_000545.8(HNF1A):c.1407C>T (p.His469=)
NM_000545.8(HNF1A):c.1497C>A (p.Pro499=)
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.1602C>T (p.Ala534=)
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)
NM_000545.8(HNF1A):c.1766_1767del (p.Thr589fs)
NM_000545.8(HNF1A):c.1768+2T>G
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg) rs1876081310
NM_000545.8(HNF1A):c.291G>A (p.Ala97=)
NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe) rs1475566248
NM_000545.8(HNF1A):c.429C>G (p.His143Gln) rs2135832689
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) rs1172328722
NM_000545.8(HNF1A):c.506A>G (p.Lys169Arg)
NM_000545.8(HNF1A):c.51C>T (p.Leu17=)
NM_000545.8(HNF1A):c.527-6_527-3del
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs)
NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser) rs1555211935
NM_000545.8(HNF1A):c.798C>G (p.Asn266Lys) rs2135841730
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.943del (p.Ser315fs)

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