ClinVar Miner

List of variants in gene SMARCAL1 reported as pathogenic for not provided

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Total variants: 5
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HGVS dbSNP
NM_014140.3(SMARCAL1):c.1483C>T (p.Gln495Ter) rs1553526228
NM_014140.3(SMARCAL1):c.415_416del (p.Leu139fs) rs781023326
NM_014140.3(SMARCAL1):c.863-2A>G rs761546902
NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter)
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300

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