ClinVar Miner

List of variants in gene PMS1 studied for Hereditary breast ovarian cancer syndrome

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000534.5(PMS1):c.605G>A (p.Arg202Lys)	rs2066459	0.00741
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys)	rs151325573	0.00212
NM_000534.5(PMS1):c.1039G>A (p.Glu347Lys)	rs1196147116

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