ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis, MPS-IV-A by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001323543.1(GALNS):c.-523T>C rs116702472 0.03132
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173

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