ClinVar Miner

List of variants in gene SACS reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 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.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) rs2137561134
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6837dup (p.Glu2280fs) rs748765057
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518

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