ClinVar Miner

List of variants in gene SACS reported as pathogenic for not provided

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11509del (p.Gln3837fs) rs2137566018
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs) rs1883423972
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter) rs2137718900
NM_014363.6(SACS):c.1925del (p.Gly642fs) rs2137717323
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2593A>T (p.Lys865Ter) rs1566072001
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.3168del (p.Asp1057fs) rs2137637783
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs) rs1869112857
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4265_4274dup (p.Asp1425_Ile1426insAlaTer) rs1555252433
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter) rs1868929983
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs) rs2137622518
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7374del (p.Met2459fs) rs1868615639
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.9332del (p.Asn3111fs) rs1883705830
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518

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