ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000352.4(ABCC8):c.-113G>A rs886048056
NM_000352.5(ABCC8):c.*93T>A rs886048046
NM_000352.5(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_000352.5(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692
NM_000352.5(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.5(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054
NM_000352.5(ABCC8):c.2117-10C>A rs886048053
NM_000352.5(ABCC8):c.2256-3C>T rs756328102
NM_000352.5(ABCC8):c.2256-9C>T rs886048052
NM_000352.5(ABCC8):c.2694+15G>A rs886048051
NM_000352.5(ABCC8):c.291-3C>T rs764107333
NM_000352.5(ABCC8):c.2937C>T (p.Ser979=) rs780868010
NM_000352.5(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.5(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568
NM_000352.5(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472
NM_000352.5(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362
NM_000352.5(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.5(ABCC8):c.3558-6C>G rs886048050
NM_000352.5(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
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.413-15A>G rs758744263
NM_000352.5(ABCC8):c.4199-8C>T rs886048048
NM_000352.5(ABCC8):c.4239G>T (p.Pro1413=) rs373478721
NM_000352.5(ABCC8):c.4307+13A>C rs886048047
NM_000352.5(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.5(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560
NM_000352.5(ABCC8):c.541A>T (p.Met181Leu) rs368894930
NM_000352.5(ABCC8):c.853C>T (p.Arg285Trp) rs773087569

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