ClinVar Miner

List of variants in gene SBF2 reported as likely pathogenic

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Total variants: 8
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HGVS dbSNP
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.3(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_030962.3(SBF2):c.4257+1G>A rs876661288
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_030962.3(SBF2):c.5254_5255insTTAT (p.Lys1752Ilefs) rs1064793771
NM_030962.3(SBF2):c.5451+2T>G rs886042830
NM_030962.3(SBF2):c.619+1G>A

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