ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239 0.00051
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr) rs779228581 0.00022
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000046.5(ARSB):c.240G>A (p.Val80=) rs368338486 0.00010
NM_000046.5(ARSB):c.312+8G>C rs774555967 0.00009
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000046.5(ARSB):c.105G>A (p.Pro35=) rs1423589060 0.00004
NM_000046.5(ARSB):c.261G>A (p.Thr87=) rs756411069 0.00004
NM_000046.5(ARSB):c.129G>A (p.Arg43=) rs761491971 0.00003
NM_000046.5(ARSB):c.246G>A (p.Leu82=) rs1035210606 0.00002
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595 0.00002
NM_000046.5(ARSB):c.117C>T (p.Ala39=) rs1191475106 0.00001
NM_000046.5(ARSB):c.144C>T (p.Val48=) rs1333402479 0.00001
NM_000046.5(ARSB):c.163C>T (p.Leu55=) rs769716793 0.00001
NM_000046.5(ARSB):c.174C>T (p.Asn58=) rs1753117512 0.00001
NM_000046.5(ARSB):c.222G>C (p.Ala74=) rs1160145148 0.00001
NM_000046.5(ARSB):c.231C>T (p.Ala77=) rs542520705 0.00001
NM_000046.5(ARSB):c.264G>A (p.Gln88=) rs750947605 0.00001
NM_000046.5(ARSB):c.267G>C (p.Pro89=) rs573453966 0.00001
NM_000046.5(ARSB):c.276G>A (p.Thr92=) rs1474189742 0.00001
NM_000046.5(ARSB):c.279G>A (p.Pro93=) rs1264986788 0.00001
NM_000046.5(ARSB):c.312+10G>T rs901158566 0.00001
NM_000046.5(ARSB):c.312+7G>A rs1315861475 0.00001
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810 0.00001
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013 0.00001
NM_000046.5(ARSB):c.91T>C (p.Leu31=) rs1215729608 0.00001
NM_000046.5(ARSB):c.102G>A (p.Pro34=) rs1466555919
NM_000046.5(ARSB):c.111G>C (p.Ser37=) rs2112583225
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.120G>T (p.Gly40=)
NM_000046.5(ARSB):c.123C>A (p.Ala41=) rs886038216
NM_000046.5(ARSB):c.132G>T (p.Pro44=) rs749069139
NM_000046.5(ARSB):c.135C>G (p.Pro45=) rs2112582844
NM_000046.5(ARSB):c.141G>C (p.Leu47=)
NM_000046.5(ARSB):c.147C>T (p.Phe49=)
NM_000046.5(ARSB):c.150G>A (p.Leu50=) rs2112582698
NM_000046.5(ARSB):c.159C>T (p.Asp53=)
NM_000046.5(ARSB):c.15C>A (p.Gly5=)
NM_000046.5(ARSB):c.15C>G (p.Gly5=) rs1313700683
NM_000046.5(ARSB):c.15C>T (p.Gly5=)
NM_000046.5(ARSB):c.180C>A (p.Val60=)
NM_000046.5(ARSB):c.180C>T (p.Val60=)
NM_000046.5(ARSB):c.189C>T (p.His63=)
NM_000046.5(ARSB):c.18G>A (p.Ala6=)
NM_000046.5(ARSB):c.18G>C (p.Ala6=) rs1047766714
NM_000046.5(ARSB):c.195C>A (p.Ser65=)
NM_000046.5(ARSB):c.195C>T (p.Ser65=) rs2112582289
NM_000046.5(ARSB):c.210G>A (p.Pro70=)
NM_000046.5(ARSB):c.21G>A (p.Ala7=) rs1266041134
NM_000046.5(ARSB):c.21G>C (p.Ala7=)
NM_000046.5(ARSB):c.222G>A (p.Ala74=) rs1160145148
NM_000046.5(ARSB):c.225G>A (p.Leu75=) rs1362656468
NM_000046.5(ARSB):c.225G>T (p.Leu75=)
NM_000046.5(ARSB):c.228G>A (p.Ala76=)
NM_000046.5(ARSB):c.234C>G (p.Gly78=)
NM_000046.5(ARSB):c.244C>T (p.Leu82=)
NM_000046.5(ARSB):c.246G>T (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.25T>C (p.Leu9=)
NM_000046.5(ARSB):c.267G>A (p.Pro89=) rs573453966
NM_000046.5(ARSB):c.282G>A (p.Ser94=) rs2112581145
NM_000046.5(ARSB):c.283C>A (p.Arg95=)
NM_000046.5(ARSB):c.285G>A (p.Arg95=) rs763502806
NM_000046.5(ARSB):c.300T>C (p.Thr100=) rs1753094740
NM_000046.5(ARSB):c.306C>G (p.Arg102=)
NM_000046.5(ARSB):c.309C>T (p.Tyr103=)
NM_000046.5(ARSB):c.30C>G (p.Pro10=)
NM_000046.5(ARSB):c.312+11C>T
NM_000046.5(ARSB):c.312+12C>T
NM_000046.5(ARSB):c.312+14C>A rs1293997321
NM_000046.5(ARSB):c.312+14C>G
NM_000046.5(ARSB):c.312+14C>T
NM_000046.5(ARSB):c.312+14_312+18del
NM_000046.5(ARSB):c.312+14_312+22del rs1425725676
NM_000046.5(ARSB):c.312+15C>G
NM_000046.5(ARSB):c.312+16G>A
NM_000046.5(ARSB):c.312+17C>G
NM_000046.5(ARSB):c.312+18C>T
NM_000046.5(ARSB):c.312+19_312+36del rs762417834
NM_000046.5(ARSB):c.312+19_312+41del
NM_000046.5(ARSB):c.312+8G>A rs774555967
NM_000046.5(ARSB):c.312+8_312+16dup
NM_000046.5(ARSB):c.312+9C>A rs2112580691
NM_000046.5(ARSB):c.33A>G (p.Arg11=)
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.39C>T (p.Pro13=)
NM_000046.5(ARSB):c.48G>A (p.Arg16=)
NM_000046.5(ARSB):c.48G>C (p.Arg16=)
NM_000046.5(ARSB):c.60C>T (p.Leu20=) rs2112583734
NM_000046.5(ARSB):c.63C>G (p.Pro21=) rs1221636759
NM_000046.5(ARSB):c.63C>T (p.Pro21=)
NM_000046.5(ARSB):c.69C>T (p.Val23=) rs765737800
NM_000046.5(ARSB):c.6T>A (p.Gly2=)
NM_000046.5(ARSB):c.85C>T (p.Leu29=)
NM_000046.5(ARSB):c.90G>A (p.Leu30=)
NM_000046.5(ARSB):c.94T>C (p.Leu32=) rs2112583408
NM_000046.5(ARSB):c.99G>A (p.Ala33=)
NM_000046.5(ARSB):c.9G>A (p.Pro3=)
NM_000046.5(ARSB):c.9G>C (p.Pro3=) rs1289000597

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