ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-A by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
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.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
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_000512.4(GALNS):c.-92T>C rs116702472 0.03132
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.-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.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000512.5(GALNS):c.-54G>A rs369448232 0.00280
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
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.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.*523G>A rs181174683 0.00076
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_000512.5(GALNS):c.*197C>T rs187469283 0.00051
NM_000512.5(GALNS):c.*573A>G rs551511278 0.00047
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.*140C>A rs557356503 0.00031
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.*29A>C rs377151771 0.00027
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.*656T>C rs763539126 0.00019
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn) rs202031547 0.00018
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.*287T>C rs776880179 0.00014
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000512.5(GALNS):c.*145C>T rs539285988 0.00004
NM_000512.5(GALNS):c.*95T>A rs536448022 0.00004
NM_000512.5(GALNS):c.97A>G (p.Ile33Val) rs768296954 0.00004
NM_000512.5(GALNS):c.*610G>T rs755706847 0.00003
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000512.5(GALNS):c.*263T>C rs886052451 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val) rs201153945 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000512.5(GALNS):c.*144T>C rs1157099470 0.00001
NM_000512.5(GALNS):c.*186C>G rs1032068378 0.00001
NM_000512.5(GALNS):c.*20C>G rs886052454 0.00001
NM_000512.5(GALNS):c.*503T>G rs573836350 0.00001
NM_000512.5(GALNS):c.*639T>G rs1186947306 0.00001
NM_000512.5(GALNS):c.*86C>T rs897826613 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe) rs368784505 0.00001
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp) rs762690924 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr) rs763093375 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*212C>A rs117754023
NM_000512.5(GALNS):c.*261T>G rs915733731
NM_000512.5(GALNS):c.*270T>C rs1909389591
NM_000512.5(GALNS):c.*387T>G rs1909377767
NM_000512.5(GALNS):c.*520C>A rs80125890
NM_000512.5(GALNS):c.*70T>C rs933630786
NM_000512.5(GALNS):c.-10C>G rs781533703
NM_000512.5(GALNS):c.-58C>A rs1244075467
NM_000512.5(GALNS):c.-58C>G rs1244075467
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1410G>A (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu) rs1298604798

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