ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-A by Fulgent Genetics, Fulgent Genetics

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Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu) rs1482155729
NM_000512.5(GALNS):c.1459A>T (p.Asn487Tyr)
NM_000512.5(GALNS):c.1483-1G>T
NM_000512.5(GALNS):c.1487G>A (p.Trp496Ter)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.503del (p.Gly168fs)
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.910_914del (p.Gly304fs)

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