ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis type 1 by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.40016
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.21694
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17458
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.17199
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.17147
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14873
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03215
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00809
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00558
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00215
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.973-45G>C rs6831021

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