ClinVar Miner

List of variants reported as benign for mucopolysaccharidosis type 4A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
NM_000512.5(GALNS):c.*367T>C rs1141390 0.33207
NM_000512.5(GALNS):c.*611A>G rs1135364 0.26293
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_000512.5(GALNS):c.*652A>G rs1135366 0.23189
NM_000512.5(GALNS):c.*701C>G rs77936719 0.21621
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_000512.5(GALNS):c.-68C>T rs144789309 0.01019
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000512.5(GALNS):c.566+5T>C rs3743545 0.00118
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000512.5(GALNS):c.1139+20del
NM_000512.5(GALNS):c.120+13G>A
NM_000512.5(GALNS):c.121-17C>T
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.244+14del
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.633+9del
NM_000512.5(GALNS):c.759-16del

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