ClinVar Miner

List of variants in gene SPG7 reported by OMIM

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Total variants: 12
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1739_1741TGG[1] (p.Val581del)
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
SPG7, 1-BP DEL, 1616C
SPG7, 1-BP INS, 2228A
SPG7, 2-BP DEL, 1-BP INS, 850
SPG7, 2-BP DEL, NT784
SPG7, 5.1-KB DEL
SPG7, 9.5-KB DEL

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