ClinVar Miner

List of variants in gene GALNS reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.1241dup (p.Ile416fs) rs1910631809
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
NM_000512.5(GALNS):c.374del (p.Pro125fs)
NM_000512.5(GALNS):c.423-11_425del

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