ClinVar Miner

List of variants in gene SACS reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) rs765626875
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380

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