ClinVar Miner

List of variants in gene NAGLU reported as uncertain significance for Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V

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Total variants: 12
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HGVS dbSNP
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)

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