ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis type 6 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000046.4(ARSB):c.-265G>A rs72764913 0.02482
NM_000046.4(ARSB):c.-246C>T rs180784385 0.00598
NM_000046.5(ARSB):c.*2708G>A rs141667208 0.00581
NM_000046.5(ARSB):c.*1635G>A rs35597782 0.00552
NM_000046.5(ARSB):c.*2408A>G rs13354324 0.00491
NM_000046.4(ARSB):c.-239T>A rs115264286 0.00346
NM_000046.5(ARSB):c.*2013G>A rs113059935 0.00334
NM_000046.5(ARSB):c.*1146G>A rs141001994 0.00333
NM_000046.5(ARSB):c.*2707C>T rs183918206 0.00285
NM_000046.5(ARSB):c.*1153C>A rs116753785 0.00278
NM_000046.5(ARSB):c.*2608G>A rs569254528 0.00248
NM_000046.5(ARSB):c.*994C>A rs190632756 0.00186
NM_000046.4(ARSB):c.-331G>A rs538223324 0.00144
NM_000046.3(ARSB):c.-726C>T rs116419942 0.00114
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000046.5(ARSB):c.*1420G>A rs79166190 0.00073
NM_000046.5(ARSB):c.*965A>G rs144818735 0.00070
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.*3047T>C rs560253823 0.00052
NM_000046.5(ARSB):c.*810C>T rs777160780 0.00048
NM_000046.5(ARSB):c.*2251G>A rs532513960 0.00046
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_000046.3(ARSB):c.-590A>T rs138175832 0.00040
NM_000046.5(ARSB):c.*1610G>A rs867100156 0.00029
NM_000046.5(ARSB):c.*166G>A rs181321349 0.00029
NM_000046.5(ARSB):c.*212A>G rs561718720 0.00028
NM_000046.5(ARSB):c.*2559G>A rs975658724 0.00028
NM_000046.5(ARSB):c.*1951A>G rs149854678 0.00027
NM_000046.5(ARSB):c.*933C>T rs924998163 0.00019
NM_000046.5(ARSB):c.*1594C>A rs188998831 0.00018
NM_000046.5(ARSB):c.*1729del rs369595123 0.00018
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr) rs201234153 0.00016
NM_000046.5(ARSB):c.*2571A>G rs963944156 0.00013
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000046.3(ARSB):c.-848C>T rs571164401 0.00012
NM_000046.4(ARSB):c.-187G>A rs529476939 0.00011
NM_000046.5(ARSB):c.*1373A>G rs146584784 0.00010
NM_000046.5(ARSB):c.*2672A>G rs886060780 0.00009
NM_000046.5(ARSB):c.*1513C>T rs886060786 0.00006
NM_000046.5(ARSB):c.*2287C>T rs886060782 0.00006
NM_000046.5(ARSB):c.*2684G>A rs188859845 0.00006
NM_000046.5(ARSB):c.*635C>G rs534480571 0.00006
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342 0.00006
NM_000046.5(ARSB):c.*384T>A rs970465323 0.00004
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile) rs138643812 0.00004
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895 0.00004
NM_000046.5(ARSB):c.*1326G>T rs974942925 0.00003
NM_000046.5(ARSB):c.-19G>A rs575001282 0.00003
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827 0.00003
NM_000046.5(ARSB):c.*2164T>A rs950647700 0.00002
NM_000046.5(ARSB):c.*2526T>A rs1174387311 0.00002
NM_000046.5(ARSB):c.*3163T>C rs886060778 0.00002
NM_000046.5(ARSB):c.*618C>T rs757857543 0.00002
NM_000046.5(ARSB):c.*990C>T rs886060793 0.00002
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr) rs886060797 0.00002
NM_000046.3(ARSB):c.-1058A>G rs886060802 0.00001
NM_000046.4(ARSB):c.-301G>A rs886060799 0.00001
NM_000046.4(ARSB):c.-507T>C rs886060800 0.00001
NM_000046.5(ARSB):c.*1169T>C rs886060791 0.00001
NM_000046.5(ARSB):c.*2680C>T rs1043901041 0.00001
NM_000046.5(ARSB):c.*2784C>A rs1390008938 0.00001
NM_000046.5(ARSB):c.*2831T>A rs1225906488 0.00001
NM_000046.5(ARSB):c.*3152A>G rs886060779 0.00001
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly) rs1250729156 0.00001
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762 0.00001
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-855dup rs574333268
NM_000046.4(ARSB):c.-112G>C rs886060798
NM_000046.4(ARSB):c.-276T>C rs534158632
NM_000046.5(ARSB):c.*1147G>A rs886060792
NM_000046.5(ARSB):c.*1276C>G rs886060790
NM_000046.5(ARSB):c.*1286C>T rs886060789
NM_000046.5(ARSB):c.*1360T>A rs886060788
NM_000046.5(ARSB):c.*1372dup rs551749278
NM_000046.5(ARSB):c.*1387C>T rs555581069
NM_000046.5(ARSB):c.*1499C>G rs886060787
NM_000046.5(ARSB):c.*1539dup rs886060785
NM_000046.5(ARSB):c.*1899dup rs886060784
NM_000046.5(ARSB):c.*1989C>T rs878926507
NM_000046.5(ARSB):c.*2080G>A rs886060783
NM_000046.5(ARSB):c.*2092A>T rs1748827572
NM_000046.5(ARSB):c.*2155C>T rs1748825888
NM_000046.5(ARSB):c.*2158C>T rs1463642631
NM_000046.5(ARSB):c.*2524A>T rs868066675
NM_000046.5(ARSB):c.*2525A>T rs867923783
NM_000046.5(ARSB):c.*2543_*2545dup rs397976147
NM_000046.5(ARSB):c.*2578A>T rs548093605
NM_000046.5(ARSB):c.*2593T>G rs1748811214
NM_000046.5(ARSB):c.*2637_*2639dup rs886060781
NM_000046.5(ARSB):c.*3147G>A rs1425606069
NM_000046.5(ARSB):c.*3174T>G rs886060777
NM_000046.5(ARSB):c.*3181T>A rs11750774
NM_000046.5(ARSB):c.*340A>C rs1234619423
NM_000046.5(ARSB):c.*420A>G rs1748876744
NM_000046.5(ARSB):c.*608G>A rs886060796
NM_000046.5(ARSB):c.*619G>T rs886060795
NM_000046.5(ARSB):c.*793T>A rs886060794
NM_000046.5(ARSB):c.*922C>T rs201284766
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339

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