ClinVar Miner

List of variants studied for autosomal dominant complex spastic paraplegia by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu) rs766264810
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter) rs1057519300
NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter) rs1057519301
NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs) rs2147945425
NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs) rs1057519302

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