ClinVar Miner

List of variants in gene SPG7 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) rs746668495 0.00001
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) rs371504521 0.00001
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter) rs1482442290 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser) rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003

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