ClinVar Miner

List of variants in gene SMARCB1 reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.1033G>A (p.Asp345Asn) rs794727911 0.00001
NM_003073.5(SMARCB1):c.366A>T (p.Glu122Asp) rs1060503018 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) rs769322487 0.00001
NM_003073.5(SMARCB1):c.*6C>T
NM_003073.5(SMARCB1):c.-4C>T
NM_003073.5(SMARCB1):c.1021C>T (p.Arg341Trp)
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1155G>C (p.Trp385Cys) rs2030841425
NM_003073.5(SMARCB1):c.13G>C (p.Ala5Pro) rs1928040877
NM_003073.5(SMARCB1):c.278C>T (p.Ala93Val) rs2145963921
NM_003073.5(SMARCB1):c.363-6C>G
NM_003073.5(SMARCB1):c.377A>G (p.Lys126Arg)
NM_003073.5(SMARCB1):c.400A>C (p.Thr134Pro)
NM_003073.5(SMARCB1):c.415T>C (p.Ser139Pro)
NM_003073.5(SMARCB1):c.440G>A (p.Cys147Tyr)
NM_003073.5(SMARCB1):c.461A>G (p.Asn154Ser) rs1057523475
NM_003073.5(SMARCB1):c.559G>T (p.Val187Phe) rs1568943235
NM_003073.5(SMARCB1):c.616T>C (p.Trp206Arg)
NM_003073.5(SMARCB1):c.62A>G (p.Asp21Gly) rs2145952092
NM_003073.5(SMARCB1):c.652T>C (p.Phe218Leu)
NM_003073.5(SMARCB1):c.700G>C (p.Val234Leu) rs1272912695
NM_003073.5(SMARCB1):c.769C>A (p.Gln257Lys)
NM_003073.5(SMARCB1):c.856_858del (p.Lys286del) rs1060503020

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