ClinVar Miner

List of variants in gene ABCC8, LOC110121471 studied for hyperinsulinemic hypoglycemia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
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.2391-17G>T rs201484528 0.00206
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp) rs142620721 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2475+19G>A rs373894772 0.00001
NM_000352.6(ABCC8):c.2292-1G>A rs1564905676
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621

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