ClinVar Miner

List of variants studied for mucopolysaccharidosis type 4A by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006

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