ClinVar Miner

List of variants reported as likely benign for autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760

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