ClinVar Miner

List of variants in gene ABCC8 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000352.5(ABCC8):c.2256-16del rs774508952
NM_000352.6(ABCC8):c.-19A>G rs193922394
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442
NM_001287174.2(ABCC8):c.3332+6C>T rs113873225

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