ClinVar Miner

List of variants in gene SMARCAL1 reported by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071 0.00002
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys) rs119473037 0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034 0.00001
NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter) rs119473035
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1643T>A (p.Ile548Asn) rs119473036

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