ClinVar Miner

List of variants studied for mucopolysaccharidosis type 3B by New York Genome Center

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)	rs774971794	0.00003
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)	rs1432587285	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly)	rs2143115890

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