ClinVar Miner

List of variants reported as uncertain significance for mucopolysaccharidosis type 4A by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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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.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1482+5G>A rs2142982032
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.779A>T (p.Glu260Val)

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