ClinVar Miner

List of variants studied for hereditary spastic paraplegia by DASA

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_014844.5(TECPR2):c.1751del (p.Gly584fs) rs1345546964
NM_014846.4(WASHC5):c.1120C>T (p.Arg374Ter)
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.4(SPAST):c.1849T>G (p.Ter617Glu) rs1553321270
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter) rs201395198

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