ClinVar Miner

List of variants reported as pathogenic by Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012 0.00003
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs) rs1555394376 0.00001
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_004820.5(CYP7B1):c.914dup (p.Met305fs) rs1554524697
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln) rs1553316816
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490

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