ClinVar Miner

List of variants studied for diazoxide-resistant focal hyperinsulinism by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000352.5(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.3989-3C>G rs1324242791
NM_000352.5(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.5(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.5(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716

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