ClinVar Miner

List of variants in gene PLS1 reported as uncertain significance by GeneDx

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001145319.2(PLS1):c.770G>A (p.Gly257Asp) rs201068539 0.00005
NM_001145319.2(PLS1):c.1846G>A (p.Val616Met) rs1933152012 0.00001
NM_001145319.2(PLS1):c.1057_1065del (p.Pro353_Asp355del) rs2038048239
NM_001145319.2(PLS1):c.136C>T (p.Pro46Ser) rs765159104
NM_001145319.2(PLS1):c.193A>G (p.Ser65Gly)
NM_001145319.2(PLS1):c.981+5G>A
NM_001145319.2(PLS1):c.981+5G>T rs2472757233

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