ClinVar Miner

List of variants in gene SACS reported as likely pathogenic for Spastic paraplegia

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754 0.00001
NC_000013.11:g.(?_23353775)_(23358491_?)del
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs) rs1883566609
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr) rs1883537654
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) rs1593121507
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val) rs1883393913
NM_014363.6(SACS):c.458-2A>C rs2137743517
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro) rs2137596408
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) rs1593125290

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