ClinVar Miner

List of variants in gene combination LOC130060903, NAGLU reported as likely pathogenic for mucopolysaccharidosis type 3B

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) rs1246249632 0.00004
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) rs794726880 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) rs2143075651
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.113_131dup (p.Asp47fs)
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) rs1555621402
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.224_231dup (p.Arg78fs)
NM_000263.4(NAGLU):c.229_236del (p.Val77fs) rs2143076634
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
NM_000263.4(NAGLU):c.2T>A (p.Met1Lys)
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) rs2092905845
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)
NM_000263.4(NAGLU):c.82del (p.Glu28fs) rs1430122594

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