ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 6 by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 0.00003
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 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

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