ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3B by Neuberg Centre For Genomic Medicine, NCGM

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.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs)
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) rs756865833

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