ClinVar Miner

List of variants in gene SBF2 reported as pathogenic

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Total variants: 12
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HGVS dbSNP
NC_000011.9:g.(?_10215449)_(10215534_?)del
NM_030962.3(SBF2):c.1053+2T>C rs1554977189
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.4315C>T (p.Gln1439Ter) rs879253988
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.548T>A (p.Leu183Ter) rs1554990103
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
SBF2, EX11-12DEL
SBF2, IVS32DS, G-C, +1

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