ClinVar Miner

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

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_014363.5(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.5(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.5(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.5(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.5(SACS):c.5732C>T (p.Thr1911Met) rs368494148
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.5(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)

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