ClinVar Miner

List of variants in gene ABCC8, KCNJ11 studied for maturity-onset diabetes of the young

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01100
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_000525.4(KCNJ11):c.-559G>C rs547932593

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