ClinVar Miner

List of variants in gene SEPTIN9 reported by Athena Diagnostics Inc

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) rs2627223 0.89112
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) rs34587622 0.08095
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) rs3765043 0.01048
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856

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