ClinVar Miner

List of variants in gene SPG7 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.3(SPG7):c.1053dupC (p.Gly352Argfs) rs760818649
NM_003119.3(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.3(SPG7):c.120G>A (p.Gly40=) rs187330648
NM_003119.3(SPG7):c.1324+10C>T rs202070075
NM_003119.3(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.3(SPG7):c.1493T>C (p.Leu498Pro) rs886043594
NM_003119.3(SPG7):c.185G>A (p.Ser62Asn) rs143294686
NM_003119.3(SPG7):c.1A>G (p.Met1Val) rs794726906
NM_003119.3(SPG7):c.234G>T (p.Leu78Phe) rs770487062
NM_003119.3(SPG7):c.376+1G>T rs746053679
NM_003119.3(SPG7):c.584A>G (p.Tyr195Cys) rs145776296
NM_003119.3(SPG7):c.637C>T (p.Arg213Ter) rs774774648

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