List of variants in gene ABCC8, LOC110121471 studied for Hyperinsulinemic hypoglycemia, familial, 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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.2389C>T (p.Arg797Trp)	rs142620721	0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)	rs202189540	0.00006
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.2350GAG[1] (p.Glu785del)
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)	rs1554916621

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