ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1483-2A>C
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala) rs1912009292
NM_000512.5(GALNS):c.835del (p.Asp279fs)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771

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