ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-B by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro) rs2092906031
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile) rs886493431
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val) rs2092905670
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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