ClinVar Miner

List of variants reported as benign for mucosulfatidosis by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42363
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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