ClinVar Miner

List of variants in gene SPG7 reported as uncertain significance by GeneDx

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Total variants: 24
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HGVS dbSNP
GRCh37/hg19 16q24.3(chr16:89623304-89624182)x3
NM_003119.4(SPG7):c.1171C>T (p.Arg391Trp) rs1057524520
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030
NM_003119.4(SPG7):c.1305G>T (p.Gln435His) rs559906913
NM_003119.4(SPG7):c.1760A>C (p.His587Pro) rs1057524632
NM_003119.4(SPG7):c.1771G>A (p.Val591Met) rs199804717
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138
NM_003119.4(SPG7):c.2041G>C (p.Glu681Gln) rs863224221
NM_003119.4(SPG7):c.2143G>A (p.Glu715Lys) rs374302115
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val) rs1433673841
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791
NM_003119.4(SPG7):c.2227A>C (p.Ile743Leu) rs372231786
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) rs863224217
NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn) rs863224218
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr) rs777638594
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296
NM_003119.4(SPG7):c.58C>T (p.Arg20Trp) rs863224222
NM_003119.4(SPG7):c.703A>G (p.Ile235Val) rs191022979
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294
NM_003119.4(SPG7):c.941T>C (p.Met314Thr) rs863224219

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