ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-A by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile) rs768180795 0.00005
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_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
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.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.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1241dup (p.Ile416fs) rs1910631809
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
NM_000512.5(GALNS):c.1483-2A>C
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
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.374del (p.Pro125fs)
NM_000512.5(GALNS):c.423-11_425del
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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