ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.136del (p.Ala46fs) rs2143075902
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) rs118204024
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.147del (p.Val50fs)
NM_000263.4(NAGLU):c.192del (p.Tyr65fs) rs2092906340
NM_000263.4(NAGLU):c.1A>G (p.Met1Val) rs1325661354
NM_000263.4(NAGLU):c.1A>T (p.Met1Leu)
NM_000263.4(NAGLU):c.204del (p.Gly69fs)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup) rs1567890245
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) rs1555621442
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.222_223del (p.Val75fs) rs2143076561
NM_000263.4(NAGLU):c.222_247del (p.Val75fs) rs1201516783
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) rs1599253805
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) rs1599253815
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs) rs2143076795
NM_000263.4(NAGLU):c.259G>C (p.Ala87Pro)
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)
NM_000263.4(NAGLU):c.34dup (p.Val12fs)
NM_000263.4(NAGLU):c.37_40dup (p.Leu14fs)
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile) rs2143074939
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.54_60dup (p.Ala21fs) rs2143075344
NM_000263.4(NAGLU):c.59dup (p.Ala21fs) rs1253870232
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs) rs2143075470
NM_000263.4(NAGLU):c.82dup (p.Glu28fs)

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