ClinVar Miner

List of variants in gene SMARCAL1 reported as likely pathogenic

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Total variants: 23
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HGVS dbSNP
NC_000002.11:g.(?_217285012)_(217315797_?)dup
NC_000002.11:g.(?_217311731)_(217311891_?)del
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1190T>C (p.Leu397Pro) rs1057524680
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162
NM_014140.3(SMARCAL1):c.1499_1500delinsTT (p.Trp500Phe) rs1553526733
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.3(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035
NM_014140.3(SMARCAL1):c.2448C>A (p.Asp816Glu) rs1057524681
NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161
NM_014140.3(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)
NM_014140.4(SMARCAL1):c.1644+1G>T
NM_014140.4(SMARCAL1):c.1645-2A>G
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
NM_014140.4(SMARCAL1):c.2141+1G>A
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs)
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs) rs1574443257

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