ClinVar Miner

List of variants in gene SPG7 studied for Spastic Paraplegia, Recessive

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Total variants: 47
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HGVS dbSNP
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.*11T>A rs201811837
NM_003119.4(SPG7):c.*140G>T rs112587045
NM_003119.4(SPG7):c.*195C>T rs113818240
NM_003119.4(SPG7):c.*33C>T rs60711430
NM_003119.4(SPG7):c.*362C>T rs111725561
NM_003119.4(SPG7):c.*398G>A rs148314733
NM_003119.4(SPG7):c.*432G>A rs545177317
NM_003119.4(SPG7):c.*490_*491CA[3] rs375330718
NM_003119.4(SPG7):c.*524dup rs886052476
NM_003119.4(SPG7):c.*587G>A rs8058041
NM_003119.4(SPG7):c.*592C>T rs8059296
NM_003119.4(SPG7):c.*656G>C rs8058221
NM_003119.4(SPG7):c.*97G>A rs886052475
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.4(SPG7):c.1295C>T (p.Thr432Met) rs781129301
NM_003119.4(SPG7):c.1324+10C>T rs202070075
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299
NM_003119.4(SPG7):c.141G>A (p.Arg47=) rs886052473
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr) rs540602203
NM_003119.4(SPG7):c.1639T>G (p.Tyr547Asp) rs886052474
NM_003119.4(SPG7):c.1663+13C>T rs80324518
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg) rs781314016
NM_003119.4(SPG7):c.1936+12C>T rs112379588
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) rs140356355
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248
NM_003119.4(SPG7):c.2083C>T (p.Leu695=) rs754203248
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994
NM_003119.4(SPG7):c.308C>A (p.Thr103Asn) rs746764772
NM_003119.4(SPG7):c.618+12T>C rs3803679
NM_003119.4(SPG7):c.618+14C>T rs574361328
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772
NM_003119.4(SPG7):c.663G>A (p.Lys221=) rs575421836
NM_003119.4(SPG7):c.817C>T (p.Arg273Cys) rs748547018
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn) rs863224215
NM_003119.4(SPG7):c.987+5A>G rs4785691
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838

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