ClinVar Miner

List of variants reported as uncertain significance for mucosulfatidosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_182760.4(SUMF1):c.*140C>T rs189928088 0.00164
NM_182760.4(SUMF1):c.*548T>C rs185598903 0.00150
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297 0.00085
NM_182760.4(SUMF1):c.*948C>T rs141075396 0.00077
NM_182760.4(SUMF1):c.*305C>G rs141387556 0.00075
NM_182760.4(SUMF1):c.*874C>T rs145484019 0.00056
NM_182760.4(SUMF1):c.*463G>T rs930735447 0.00054
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_182760.4(SUMF1):c.*297C>T rs111257010 0.00038
NM_182760.4(SUMF1):c.212C>T (p.Ser71Leu) rs375739887 0.00038
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_182760.4(SUMF1):c.602+12C>T rs200971871 0.00029
NM_182760.4(SUMF1):c.*976A>G rs886058510 0.00021
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_182760.4(SUMF1):c.*953C>T rs571869267 0.00014
NM_182760.4(SUMF1):c.215G>T (p.Arg72Leu) rs567209740 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_182760.4(SUMF1):c.*152C>G rs560350613 0.00013
NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile) rs764215221 0.00011
NM_182760.4(SUMF1):c.797C>T (p.Pro266Leu) rs763243827 0.00011
NM_182760.4(SUMF1):c.251G>A (p.Arg84Gln) rs762094231 0.00009
NM_182760.4(SUMF1):c.802A>G (p.Thr268Ala) rs141447969 0.00008
NM_182760.4(SUMF1):c.*150G>A rs185951165 0.00006
NM_182760.4(SUMF1):c.*821G>A rs184134840 0.00006
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132 0.00006
NM_182760.4(SUMF1):c.271-7A>G rs371283922 0.00006
NM_182760.4(SUMF1):c.932C>T (p.Ser311Phe) rs552583949 0.00006
NM_182760.4(SUMF1):c.*820C>T rs137921931 0.00005
NM_182760.4(SUMF1):c.1034G>A (p.Arg345His) rs139267495 0.00004
NM_182760.4(SUMF1):c.1076C>T (p.Ser359Leu) rs137852844 0.00004
NM_182760.4(SUMF1):c.233G>A (p.Gly78Asp) rs753398300 0.00004
NM_182760.4(SUMF1):c.321G>T (p.Gln107His) rs199741767 0.00004
NM_182760.4(SUMF1):c.376A>C (p.Met126Leu) rs144327900 0.00004
NM_182760.4(SUMF1):c.505A>C (p.Asn169His) rs377536906 0.00004
NM_182760.4(SUMF1):c.532C>G (p.Pro178Ala) rs572034731 0.00004
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala) rs150870957 0.00004
NM_182760.4(SUMF1):c.726-14G>T rs370793169 0.00004
NM_182760.4(SUMF1):c.301A>G (p.Met101Val) rs750960451 0.00003
NM_182760.4(SUMF1):c.593T>C (p.Ile198Thr) rs545327769 0.00003
NM_182760.4(SUMF1):c.641C>T (p.Ala214Val) rs367628085 0.00003
NM_182760.4(SUMF1):c.1004T>C (p.Met335Thr) rs767157911 0.00002
NM_182760.4(SUMF1):c.1014+12C>T rs776947608 0.00002
NM_182760.4(SUMF1):c.139G>A (p.Ala47Thr) rs368821807 0.00002
NM_182760.4(SUMF1):c.140C>A (p.Ala47Glu) rs779961693 0.00002
NM_182760.4(SUMF1):c.221C>G (p.Ala74Gly) rs750170847 0.00002
NM_182760.4(SUMF1):c.483G>T (p.Met161Ile) rs369923156 0.00002
NM_182760.4(SUMF1):c.616G>A (p.Val206Ile) rs1303958118 0.00002
NM_182760.4(SUMF1):c.680C>T (p.Thr227Met) rs566145117 0.00002
NM_182760.4(SUMF1):c.952C>T (p.Pro318Ser) rs201462109 0.00002
NM_182760.4(SUMF1):c.*279C>T rs1699769914 0.00001
NM_182760.4(SUMF1):c.*639T>C rs886058514 0.00001
NM_182760.4(SUMF1):c.1039G>T (p.Ala347Ser) rs755981501 0.00001
NM_182760.4(SUMF1):c.10C>G (p.Pro4Ala) rs1420466361 0.00001
NM_182760.4(SUMF1):c.122C>T (p.Ala41Val) rs748192389 0.00001
NM_182760.4(SUMF1):c.142G>C (p.Gly48Arg) rs758168390 0.00001
NM_182760.4(SUMF1):c.158G>T (p.Gly53Val) rs1258161162 0.00001
NM_182760.4(SUMF1):c.170G>A (p.Arg57Gln) rs569124341 0.00001
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521 0.00001
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu) rs752083773 0.00001
NM_182760.4(SUMF1):c.263A>C (p.His88Pro) rs768876680 0.00001
NM_182760.4(SUMF1):c.30T>C (p.Cys10=) rs746169425 0.00001
NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys) rs886058520 0.00001
NM_182760.4(SUMF1):c.444+3A>G rs756510150 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.45G>A (p.Glu15=) rs1460272243 0.00001
NM_182760.4(SUMF1):c.482T>C (p.Met161Thr) rs375792563 0.00001
NM_182760.4(SUMF1):c.517G>T (p.Ala173Ser) rs755329565 0.00001
NM_182760.4(SUMF1):c.602+10G>T rs376667963 0.00001
NM_182760.4(SUMF1):c.623A>G (p.His208Arg) rs1346873498 0.00001
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171 0.00001
NM_182760.4(SUMF1):c.661G>A (p.Ala221Thr) rs764755839 0.00001
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102 0.00001
NM_182760.4(SUMF1):c.811G>A (p.Gly271Ser) rs777356483 0.00001
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr) rs749715515 0.00001
NM_182760.4(SUMF1):c.892G>A (p.Ala298Thr) rs1249221556 0.00001
NM_182760.4(SUMF1):c.935T>C (p.Val312Ala) rs1701517964 0.00001
NC_000003.11:g.(?_4403828)_(4403958_?)dup
NC_000003.11:g.(?_4403828)_(4491044_?)dup
NC_000003.11:g.(?_4403828)_(4562798_?)dup
NC_000003.11:g.(?_4403828)_(4887909_?)dup
NC_000003.11:g.(?_4490930)_(4887909_?)dup
NC_000003.11:g.(?_4494540)_(4562798_?)dup
NM_182760.3(SUMF1):c.-25C>G rs780263159
NM_182760.4(SUMF1):c.*218T>C rs532640038
NM_182760.4(SUMF1):c.*496del rs886058516
NM_182760.4(SUMF1):c.*568G>C rs73022033
NM_182760.4(SUMF1):c.*578C>G rs886058515
NM_182760.4(SUMF1):c.*67A>T rs1699779739
NM_182760.4(SUMF1):c.*692A>G rs886058513
NM_182760.4(SUMF1):c.*809C>T rs886058512
NM_182760.4(SUMF1):c.*819G>A rs886058511
NM_182760.4(SUMF1):c.*828G>A rs145383154
NM_182760.4(SUMF1):c.*948C>G rs141075396
NM_182760.4(SUMF1):c.*95C>T rs1699776293
NM_182760.4(SUMF1):c.*982G>A rs151120160
NM_182760.4(SUMF1):c.1003A>G (p.Met335Val) rs2124845082
NM_182760.4(SUMF1):c.1014+3A>G rs2124844932
NM_182760.4(SUMF1):c.1015-8C>T rs886058517
NM_182760.4(SUMF1):c.1021T>G (p.Cys341Gly)
NM_182760.4(SUMF1):c.1022G>A (p.Cys341Tyr) rs745986003
NM_182760.4(SUMF1):c.1056C>G (p.Asn352Lys)
NM_182760.4(SUMF1):c.1061C>T (p.Pro354Leu)
NM_182760.4(SUMF1):c.1070C>A (p.Ser357Tyr) rs1489482200
NM_182760.4(SUMF1):c.1072G>A (p.Ala358Thr)
NM_182760.4(SUMF1):c.1087T>G (p.Phe363Val)
NM_182760.4(SUMF1):c.108G>C (p.Glu36Asp)
NM_182760.4(SUMF1):c.1090C>T (p.Arg364Cys)
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His) rs1699785405
NM_182760.4(SUMF1):c.1102G>A (p.Asp368Asn)
NM_182760.4(SUMF1):c.1105C>T (p.Arg369Cys)
NM_182760.4(SUMF1):c.1106G>A (p.Arg369His)
NM_182760.4(SUMF1):c.112G>A (p.Gly38Arg)
NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr) rs1225993664
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
NM_182760.4(SUMF1):c.149G>C (p.Cys50Ser)
NM_182760.4(SUMF1):c.150C>G (p.Cys50Trp) rs761237429
NM_182760.4(SUMF1):c.16C>G (p.Leu6Val) rs774160105
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.173C>G (p.Pro58Arg)
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.193G>A (p.Ala65Thr)
NM_182760.4(SUMF1):c.197C>T (p.Ala66Val)
NM_182760.4(SUMF1):c.205C>G (p.Arg69Gly) rs2124822777
NM_182760.4(SUMF1):c.206G>C (p.Arg69Pro)
NM_182760.4(SUMF1):c.20G>A (p.Gly7Glu)
NM_182760.4(SUMF1):c.218A>G (p.Glu73Gly)
NM_182760.4(SUMF1):c.236C>A (p.Pro79His)
NM_182760.4(SUMF1):c.241C>A (p.Pro81Thr) rs1324832603
NM_182760.4(SUMF1):c.241C>G (p.Pro81Ala)
NM_182760.4(SUMF1):c.244G>A (p.Gly82Arg)
NM_182760.4(SUMF1):c.245G>A (p.Gly82Glu)
NM_182760.4(SUMF1):c.251_253dup (p.Arg84dup) rs1362011601
NM_182760.4(SUMF1):c.257T>A (p.Leu86His)
NM_182760.4(SUMF1):c.25G>C (p.Val9Leu)
NM_182760.4(SUMF1):c.268A>G (p.Lys90Glu)
NM_182760.4(SUMF1):c.278C>G (p.Pro93Arg) rs1311103815
NM_182760.4(SUMF1):c.284C>T (p.Pro95Leu)
NM_182760.4(SUMF1):c.287C>T (p.Ala96Val)
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg) rs776028375
NM_182760.4(SUMF1):c.305G>T (p.Gly102Val) rs1703026667
NM_182760.4(SUMF1):c.306C>T (p.Gly102=) rs1434264703
NM_182760.4(SUMF1):c.316C>T (p.Pro106Ser)
NM_182760.4(SUMF1):c.346G>A (p.Ala116Thr) rs1033881339
NM_182760.4(SUMF1):c.346G>T (p.Ala116Ser)
NM_182760.4(SUMF1):c.347C>T (p.Ala116Val) rs759486227
NM_182760.4(SUMF1):c.361A>G (p.Ile121Val)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr) rs1703023626
NM_182760.4(SUMF1):c.367G>A (p.Ala123Thr)
NM_182760.4(SUMF1):c.383C>A (p.Ala128Asp)
NM_182760.4(SUMF1):c.386A>G (p.Tyr129Cys)
NM_182760.4(SUMF1):c.388G>A (p.Glu130Lys)
NM_182760.4(SUMF1):c.38G>A (p.Cys13Tyr) rs368104860
NM_182760.4(SUMF1):c.400A>G (p.Thr134Ala) rs2125133637
NM_182760.4(SUMF1):c.40C>T (p.Pro14Ser)
NM_182760.4(SUMF1):c.425C>T (p.Ser142Leu) rs2125133568
NM_182760.4(SUMF1):c.444+4A>C rs1027883041
NM_182760.4(SUMF1):c.452A>T (p.Lys151Met)
NM_182760.4(SUMF1):c.464C>G (p.Ser155Cys) rs1702889459
NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe) rs1702889459
NM_182760.4(SUMF1):c.47T>C (p.Leu16Pro) rs2124824986
NM_182760.4(SUMF1):c.491A>T (p.Glu164Val) rs886058519
NM_182760.4(SUMF1):c.493C>A (p.Gln165Lys)
NM_182760.4(SUMF1):c.49G>A (p.Gly17Ser)
NM_182760.4(SUMF1):c.503C>A (p.Thr168Asn)
NM_182760.4(SUMF1):c.50G>T (p.Gly17Val) rs752608083
NM_182760.4(SUMF1):c.520-4T>G
NM_182760.4(SUMF1):c.52C>G (p.Leu18Val)
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
NM_182760.4(SUMF1):c.538T>A (p.Trp180Arg)
NM_182760.4(SUMF1):c.556G>A (p.Ala186Thr)
NM_182760.4(SUMF1):c.55G>C (p.Val19Leu)
NM_182760.4(SUMF1):c.568C>T (p.His190Tyr)
NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr) rs1701842186
NM_182760.4(SUMF1):c.572C>T (p.Pro191Leu)
NM_182760.4(SUMF1):c.584A>T (p.Asp195Val) rs1233415691
NM_182760.4(SUMF1):c.590C>T (p.Thr197Ile) rs2125041814
NM_182760.4(SUMF1):c.5C>T (p.Ala2Val)
NM_182760.4(SUMF1):c.605C>A (p.Pro202Gln) rs147775545
NM_182760.4(SUMF1):c.605C>T (p.Pro202Leu)
NM_182760.4(SUMF1):c.638A>T (p.Asp213Val) rs781215980
NM_182760.4(SUMF1):c.63GCT[6] (p.Leu25_Ser26insLeuLeu)
NM_182760.4(SUMF1):c.650A>G (p.Tyr217Cys)
NM_182760.4(SUMF1):c.67C>G (p.Leu23Val) rs2124824621
NM_182760.4(SUMF1):c.699C>G (p.Tyr233Ter)
NM_182760.4(SUMF1):c.707G>A (p.Arg236Gln) rs768700845
NM_182760.4(SUMF1):c.707G>C (p.Arg236Pro)
NM_182760.4(SUMF1):c.718C>T (p.His240Tyr)
NM_182760.4(SUMF1):c.720T>G (p.His240Gln)
NM_182760.4(SUMF1):c.726-7C>G
NM_182760.4(SUMF1):c.767A>G (p.His256Arg)
NM_182760.4(SUMF1):c.770A>G (p.Tyr257Cys)
NM_182760.4(SUMF1):c.770A>T (p.Tyr257Phe) rs2125032082
NM_182760.4(SUMF1):c.776A>G (p.Asn259Ser)
NM_182760.4(SUMF1):c.77C>G (p.Ser26Trp)
NM_182760.4(SUMF1):c.77C>T (p.Ser26Leu) rs759963054
NM_182760.4(SUMF1):c.789C>T (p.Gly263=)
NM_182760.4(SUMF1):c.79C>G (p.Leu27Val) rs771193676
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile) rs774110518
NM_182760.4(SUMF1):c.814G>A (p.Glu272Lys) rs2125031724
NM_182760.4(SUMF1):c.840T>G (p.Pro280=) rs1435083804
NM_182760.4(SUMF1):c.841G>A (p.Val281Ile)
NM_182760.4(SUMF1):c.845A>G (p.Asp282Gly) rs1701522507
NM_182760.4(SUMF1):c.853C>T (p.Pro285Ser)
NM_182760.4(SUMF1):c.857C>G (p.Pro286Arg)
NM_182760.4(SUMF1):c.860A>G (p.Asn287Ser)
NM_182760.4(SUMF1):c.862G>T (p.Gly288Cys)
NM_182760.4(SUMF1):c.866A>G (p.Tyr289Cys) rs772860745
NM_182760.4(SUMF1):c.878A>G (p.Asn293Ser)
NM_182760.4(SUMF1):c.880A>G (p.Ile294Val)
NM_182760.4(SUMF1):c.883G>C (p.Val295Leu)
NM_182760.4(SUMF1):c.886G>C (p.Gly296Arg) rs2125010332
NM_182760.4(SUMF1):c.890A>G (p.Asn297Ser)
NM_182760.4(SUMF1):c.8C>T (p.Ala3Val) rs996881272
NM_182760.4(SUMF1):c.901T>C (p.Trp301Arg)
NM_182760.4(SUMF1):c.910G>A (p.Asp304Asn)
NM_182760.4(SUMF1):c.922G>A (p.Val308Ile)
NM_182760.4(SUMF1):c.926A>C (p.His309Pro) rs1165338621
NM_182760.4(SUMF1):c.944C>G (p.Thr315Arg) rs146164667
NM_182760.4(SUMF1):c.944C>T (p.Thr315Met)
NM_182760.4(SUMF1):c.951C>G (p.Asn317Lys) rs375843895
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182760.4(SUMF1):c.955A>G (p.Lys319Glu) rs2124845551
NM_182760.4(SUMF1):c.998C>G (p.Ser333Cys)

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