ClinVar Miner

List of variants reported as 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.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186

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