ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-A by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 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.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
NM_000512.5(GALNS):c.1482+5G>A rs2142982032
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.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.245_248del
NM_000512.5(GALNS):c.290T>C (p.Phe97Ser)
NM_000512.5(GALNS):c.301A>G (p.Asn101Asp)
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile) rs2143004681
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)

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