ClinVar Miner

List of variants studied for Diabetes mellitus, permanent neonatal 3 by Pars Genome Lab

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072

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