List of variants in gene combination ARSB, LOC129994126 reported as likely pathogenic for Mucopolysaccharidosis type 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.305G>A (p.Arg102His)	rs759356342	0.00002
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)	rs397514441	0.00001
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)	rs1271212818	0.00001
NM_000046.5(ARSB):c.245del (p.Leu82fs)	rs750845916	0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)	rs1247117898	0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)	rs751010538	0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)	rs118203942	0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His)	rs1478202079	0.00001
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)	rs1028653411
NM_000046.5(ARSB):c.113del (p.Gly38fs)	rs1349838988
NM_000046.5(ARSB):c.114del (p.Ala39fs)	rs1554032252
NM_000046.5(ARSB):c.118_134del (p.Gly40fs)	rs398123123
NM_000046.5(ARSB):c.121dup (p.Ala41fs)	rs1561197865
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)	rs766772376
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)	rs1554032222
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)	rs1554032217
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly)	rs2112582627
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)	rs1554032216
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala)	rs1378501017
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)	rs1554032205
NM_000046.5(ARSB):c.173del (p.Asn58fs)	rs1180759765
NM_000046.5(ARSB):c.176A>T (p.Asp59Val)	rs1179935748
NM_000046.5(ARSB):c.191del (p.Gly64fs)
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)	rs1554032175
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)	rs1554032160
NM_000046.5(ARSB):c.219del (p.Asp73fs)	rs1554032153
NM_000046.5(ARSB):c.223_232del (p.Leu75fs)	rs1554032145
NM_000046.5(ARSB):c.237_243del (p.Val80fs)	rs1554032134
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)	rs749465732
NM_000046.5(ARSB):c.247_248del (p.Asp83fs)	rs1554032131
NM_000046.5(ARSB):c.253T>C (p.Tyr85His)	rs1554032129
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)	rs969231209
NM_000046.5(ARSB):c.263dup (p.Pro89fs)	rs1554032118
NM_000046.5(ARSB):c.269T>C (p.Leu90Pro)
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter)	rs1554032099
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)	rs1201268402
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)	rs118203942
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)	rs1554032094
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)	rs886039914
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)	rs1554032090
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)	rs1554032090
NM_000046.5(ARSB):c.300_312+18del	rs2112580593
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
NM_000046.5(ARSB):c.312+2T>G

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