List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-III-B by Counsyl

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		ClinVar version:

Total variants: 44

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)	rs992677795	0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)	rs104894598	0.00004
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)	rs104894590	0.00003
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)	rs751203469	0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	rs763299645	0.00002
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)	rs1485628563	0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)	rs138387856	0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)	rs104894596	0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)	rs778021009	0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)	rs527236037	0.00001
NM_000263.4(NAGLU):c.383+1G>T	rs727504028	0.00001
NM_000263.4(NAGLU):c.384-1G>A	rs764134891	0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)	rs886043792	0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)	rs1358994052	0.00001
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)	rs376090795
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)	rs1180591588
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)	rs1555622242
NM_000263.4(NAGLU):c.1112del (p.Gly371fs)	rs1555622250
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)	rs1555621402
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)	rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)	rs1250949842
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)	rs1555622354
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)	rs1396150639
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)	rs762031686
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)	rs1555622441
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)	rs1555622443
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)	rs1555622488
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)	rs1555622505
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)	rs555145190
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)	rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs)	rs1555621432
NM_000263.4(NAGLU):c.1995del (p.Leu666fs)	rs1555622545
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)	rs1555622559
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)	rs1195831432
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)	rs1431589133
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)	rs1555621448
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)	rs1013345784
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)	rs758785463
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)	rs1555621397
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)	rs1555622000
NM_000263.4(NAGLU):c.809del (p.His270fs)	rs1555622002
NM_000263.4(NAGLU):c.82del (p.Glu28fs)	rs1430122594
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)	rs756865833
NM_000263.4(NAGLU):c.867del (p.Ile290fs)	rs1555622019

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