ClinVar Miner

List of variants in gene SPG7 reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) rs1239421989 0.00006
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) rs370852816 0.00004
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) rs745459731 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1004T>G (p.Leu335Arg)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
NM_003119.4(SPG7):c.1315G>A (p.Glu439Lys)
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.2014G>C (p.Gly672Arg) rs369503365
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu) rs72547553
NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)
NM_003119.4(SPG7):c.2183T>G (p.Leu728Arg) rs1597668583
NM_003119.4(SPG7):c.2379G>T (p.Trp793Cys)
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.862-8C>A rs754296518
NM_003119.4(SPG7):c.920_925del (p.Ser307_Phe308del)

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