ClinVar Miner

List of variants in gene SACS reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 33
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HGVS dbSNP
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.2021G>T (p.Gly674Val) rs770199696
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) rs1593132851
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) rs1593132075
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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