ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3B by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00001
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312

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