ClinVar Miner

List of variants in gene SPG7 reported by Ambry Genetics

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1324+4173C>T rs144415749 0.00212
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) rs146115797 0.00027
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294 0.00014
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) rs1239421989 0.00006
NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr) rs368373840 0.00004
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile) rs750306995 0.00004
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile) rs753337774 0.00004
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) rs577389704 0.00002
NM_003119.4(SPG7):c.1771G>A (p.Val591Met) rs199804717 0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.2062C>T (p.Arg688Trp) rs1249957920 0.00001
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn) rs776661222 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1166G>A (p.Arg389His)
NM_003119.4(SPG7):c.1294A>G (p.Thr432Ala)
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
NM_003119.4(SPG7):c.1598C>T (p.Ala533Val)
NM_003119.4(SPG7):c.1741G>A (p.Val581Met)
NM_003119.4(SPG7):c.190C>G (p.Gln64Glu)
NM_003119.4(SPG7):c.197G>T (p.Arg66Ile)
NM_003119.4(SPG7):c.2114T>G (p.Leu705Arg)
NM_003119.4(SPG7):c.2157G>C (p.Gln719His)
NM_003119.4(SPG7):c.2221G>C (p.Glu741Gln)
NM_003119.4(SPG7):c.2317T>G (p.Leu773Val)
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
NM_003119.4(SPG7):c.314G>A (p.Arg105Lys)
NM_003119.4(SPG7):c.321G>C (p.Lys107Asn)
NM_003119.4(SPG7):c.347C>A (p.Ser116Ter) rs149474131
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
NM_003119.4(SPG7):c.593C>T (p.Pro198Leu)
NM_003119.4(SPG7):c.619-3C>T
NM_003119.4(SPG7):c.635A>G (p.Tyr212Cys)

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