ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3B by Myriad Genetics, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter) rs1270564492 0.00001
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter) rs2092909726
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter) rs2092912895
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)

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