ClinVar Miner

List of variants in gene SPAG1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr) rs6511 0.64386
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=) rs1788190 0.28744
NM_003114.5(SPAG1):c.991G>A (p.Glu331Lys) rs17335870 0.16498
NM_003114.5(SPAG1):c.939+13T>C rs3802149 0.16494
NM_003114.5(SPAG1):c.1059_1060insGAC (p.Lys353_Ser354insAsp) rs56246127 0.16465
NM_003114.5(SPAG1):c.1586T>C (p.Met529Thr) rs78436093 0.00763
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val) rs752257877 0.00306
NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr) rs6510 0.00200
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn) rs148883126 0.00138
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp) rs147984546 0.00111
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro) rs141605537 0.00093
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr) rs149271265 0.00042
NM_003114.5(SPAG1):c.1057A>G (p.Lys353Glu) rs556774863 0.00024
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn) rs148756457 0.00021
NM_003114.5(SPAG1):c.474C>T (p.Tyr158=) rs74597335 0.00014
NM_003114.5(SPAG1):c.1914C>T (p.Asn638=) rs150646410 0.00002
NM_003114.5(SPAG1):c.1747A>G (p.Ile583Val)
NM_003114.5(SPAG1):c.1942G>A (p.Glu648Lys)
NM_003114.5(SPAG1):c.2112C>T (p.Leu704=)
NM_003114.5(SPAG1):c.2444C>T (p.Ala815Val)
NM_003114.5(SPAG1):c.543G>A (p.Thr181=)

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