ClinVar Miner

List of variants in gene PDSS1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014317.5(PDSS1):c.1027-11T>C rs142244210 0.00084
NM_014317.5(PDSS1):c.411A>G (p.Arg137=) rs114640034 0.00083
NM_014317.5(PDSS1):c.130-18T>C rs375014698 0.00031
NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln) rs376818531 0.00017
NM_014317.5(PDSS1):c.719G>A (p.Arg240His) rs140972175 0.00014
NM_014317.5(PDSS1):c.553G>A (p.Asp185Asn) rs144149122 0.00010
NM_014317.5(PDSS1):c.1032A>G (p.Pro344=) rs200147190 0.00006
NM_014317.5(PDSS1):c.488G>A (p.Arg163His) rs780198984 0.00004
NM_014317.5(PDSS1):c.955A>G (p.Met319Val) rs754654692 0.00004
NM_014317.5(PDSS1):c.987C>T (p.Leu329=) rs769755433 0.00004
NM_014317.5(PDSS1):c.1162A>G (p.Ile388Val) rs749721462 0.00003
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) rs763915931 0.00002
NM_014317.5(PDSS1):c.859G>A (p.Val287Met) rs768568415 0.00002
NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile) rs752338178 0.00001
NM_014317.5(PDSS1):c.227+10C>T rs778136255 0.00001
NM_014317.5(PDSS1):c.296G>T (p.Gly99Val) rs777579681 0.00001
NM_014317.5(PDSS1):c.70G>C (p.Gly24Arg) rs1002908038 0.00001
NM_014317.5(PDSS1):c.802G>A (p.Ala268Thr) rs767397399 0.00001
NM_014317.5(PDSS1):c.988G>A (p.Gly330Arg) rs773085493 0.00001
NM_014317.5(PDSS1):c.590A>G (p.Lys197Arg) rs2132259534

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