ClinVar Miner

List of variants reported as benign for monogenic diabetes by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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 0.27177
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_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_000545.8(HNF1A):c.326+20C>A rs80051981 0.00722
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00540
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00255
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00216
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_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00127
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830 0.00061
NM_000545.8(HNF1A):c.210C>T (p.Ser70=) rs146686581 0.00061
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00019
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_000545.8(HNF1A):c.900C>T (p.Pro300=) rs762555237 0.00005
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004

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