ClinVar Miner

List of variants reported as likely benign for autosomal dominant complex spastic paraplegia

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=) rs61742927 0.00627
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=) rs150868908 0.00021
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=) rs369693571 0.00018
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503

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