ClinVar Miner

List of variants in gene ADAMTS10 studied for Weill-Marchesani syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_030957.4(ADAMTS10):c.1588-179G>T rs9749567 0.92646
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282 0.23173
NM_030957.4(ADAMTS10):c.*428A>G rs116024095 0.07160
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929 0.03247
NM_030957.4(ADAMTS10):c.1900+11G>C rs78421590 0.02958
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_030957.4(ADAMTS10):c.-198A>G rs4530289 0.01712
NM_030957.4(ADAMTS10):c.*449G>C rs555471852 0.01330
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496 0.01217
NM_030957.4(ADAMTS10):c.*171G>A rs79238375 0.00991
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676 0.00762
NM_030957.4(ADAMTS10):c.*259G>A rs74498506 0.00739
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_030957.4(ADAMTS10):c.2865+11C>A rs367808475 0.00505
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291 0.00472
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=) rs139761152 0.00397
NM_030957.4(ADAMTS10):c.*20G>A rs137928083 0.00385
NM_030957.4(ADAMTS10):c.*630C>T rs187201074 0.00235
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875 0.00213
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301 0.00203
NM_030957.4(ADAMTS10):c.2409G>C (p.Leu803=) rs61757472 0.00183
NM_030957.4(ADAMTS10):c.1588-11C>T rs112970413 0.00142
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=) rs142320702 0.00133
NM_030957.4(ADAMTS10):c.1901-11G>A rs117220199 0.00106
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128 0.00096
NM_030957.4(ADAMTS10):c.716G>A (p.Arg239His) rs144166844 0.00071
NM_030957.4(ADAMTS10):c.1743C>T (p.Ile581=) rs147694025 0.00067
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828 0.00064
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln) rs151257275 0.00053
NM_030957.4(ADAMTS10):c.1935G>A (p.Ala645=) rs200551849 0.00051
NM_030957.4(ADAMTS10):c.1265C>T (p.Ala422Val) rs138620046 0.00044
NM_030957.4(ADAMTS10):c.303C>T (p.His101=) rs141630862 0.00035
NM_030957.4(ADAMTS10):c.*146G>A rs910156203 0.00032
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=) rs142602984 0.00026
NM_030957.4(ADAMTS10):c.*356G>A rs141523849 0.00025
NM_030957.4(ADAMTS10):c.-99-3C>T rs1047616409 0.00022
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) rs121434358 0.00021
NM_030957.4(ADAMTS10):c.2125G>A (p.Glu709Lys) rs550588972 0.00020
NM_030957.4(ADAMTS10):c.-60G>A rs573082154 0.00017
NM_030957.4(ADAMTS10):c.-153G>A rs568567704 0.00014
NM_030957.4(ADAMTS10):c.*36T>C rs782348033 0.00013
NM_030957.4(ADAMTS10):c.1395G>A (p.Pro465=) rs367671600 0.00013
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798 0.00012
NM_030957.4(ADAMTS10):c.1149C>T (p.Gly383=) rs373993156 0.00011
NM_030957.4(ADAMTS10):c.1956G>A (p.Thr652=) rs148493665 0.00011
NM_030957.4(ADAMTS10):c.1085-10G>A rs374055293 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_030957.4(ADAMTS10):c.2415G>A (p.Arg805=) rs782638735 0.00009
NM_030957.4(ADAMTS10):c.*311A>G rs1045796093 0.00008
NM_030957.4(ADAMTS10):c.68C>T (p.Thr23Met) rs376131325 0.00008
NM_030957.4(ADAMTS10):c.2130C>T (p.Gly710=) rs183691340 0.00007
NM_030957.4(ADAMTS10):c.1176C>T (p.His392=) rs371013844 0.00006
NM_030957.4(ADAMTS10):c.613C>T (p.Arg205Trp) rs147270233 0.00006
NM_030957.4(ADAMTS10):c.628C>T (p.Arg210Trp) rs199972750 0.00006
NM_030957.4(ADAMTS10):c.3043-8C>T rs759098979 0.00005
NM_030957.4(ADAMTS10):c.*209C>T rs1471058531 0.00004
NM_030957.4(ADAMTS10):c.1569G>A (p.Thr523=) rs150203950 0.00004
NM_030957.4(ADAMTS10):c.1971C>T (p.Ala657=) rs557374103 0.00004
NM_030957.4(ADAMTS10):c.309C>T (p.Ser103=) rs1285176283 0.00004
NM_030957.4(ADAMTS10):c.*411C>T rs886054707 0.00003
NM_030957.4(ADAMTS10):c.-143G>C rs886054716 0.00003
NM_030957.4(ADAMTS10):c.1194C>T (p.Phe398=) rs782096562 0.00003
NM_030957.4(ADAMTS10):c.1794G>C (p.Thr598=) rs145420448 0.00003
NM_030957.4(ADAMTS10):c.2034+11C>T rs116541830 0.00003
NM_030957.4(ADAMTS10):c.592+8G>A rs201882173 0.00003
NM_030957.4(ADAMTS10):c.1085-5C>T rs781831794 0.00002
NM_030957.4(ADAMTS10):c.1285A>G (p.Asn429Asp) rs375444463 0.00002
NM_030957.4(ADAMTS10):c.1407G>A (p.Pro469=) rs149014496 0.00002
NM_030957.4(ADAMTS10):c.3268G>A (p.Ala1090Thr) rs782053556 0.00002
NM_030957.4(ADAMTS10):c.518A>G (p.Glu173Gly) rs187757286 0.00002
NM_030957.4(ADAMTS10):c.*330A>T rs1302375936 0.00001
NM_030957.4(ADAMTS10):c.*563C>A rs1426786259 0.00001
NM_030957.4(ADAMTS10):c.-233G>T rs1379274351 0.00001
NM_030957.4(ADAMTS10):c.1212C>T (p.Gly404=) rs1555740123 0.00001
NM_030957.4(ADAMTS10):c.1530C>G (p.Thr510=) rs886054715 0.00001
NM_030957.4(ADAMTS10):c.1880A>C (p.Lys627Thr) rs782712334 0.00001
NM_030957.4(ADAMTS10):c.1987C>A (p.Pro663Thr) rs886054714 0.00001
NM_030957.4(ADAMTS10):c.2239+10T>C rs782597342 0.00001
NM_030957.4(ADAMTS10):c.2433C>T (p.Leu811=) rs886054712 0.00001
NM_030957.4(ADAMTS10):c.487G>A (p.Gly163Ser) rs373876511 0.00001
NM_030957.4(ADAMTS10):c.517G>A (p.Glu173Lys) rs782396164 0.00001
NM_030957.4(ADAMTS10):c.644C>T (p.Pro215Leu) rs782497547 0.00001
NM_030957.4(ADAMTS10):c.810+1G>A rs387906266 0.00001
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_030957.4(ADAMTS10):c.*157G>A rs2042332746
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_030957.4(ADAMTS10):c.*322C>T rs886054708
NM_030957.4(ADAMTS10):c.*447G>T rs1385837919
NM_030957.4(ADAMTS10):c.*456del rs34057037
NM_030957.4(ADAMTS10):c.*456dup rs34057037
NM_030957.4(ADAMTS10):c.*47A>G rs905913217
NM_030957.4(ADAMTS10):c.*578C>A rs2042325419
NM_030957.4(ADAMTS10):c.-99-7C>G rs907764817
NM_030957.4(ADAMTS10):c.1084+6C>T
NM_030957.4(ADAMTS10):c.1179G>C (p.Glu393Asp)
NM_030957.4(ADAMTS10):c.1183G>A (p.Gly395Arg)
NM_030957.4(ADAMTS10):c.1190+1G>A rs431825170
NM_030957.4(ADAMTS10):c.1219A>G (p.Asn407Asp)
NM_030957.4(ADAMTS10):c.1264G>T (p.Ala422Ser)
NM_030957.4(ADAMTS10):c.133A>G (p.Thr45Ala)
NM_030957.4(ADAMTS10):c.1462C>A (p.Arg488Ser)
NM_030957.4(ADAMTS10):c.146A>G (p.His49Arg) rs1555742346
NM_030957.4(ADAMTS10):c.1480-4G>T rs368465218
NM_030957.4(ADAMTS10):c.1520G>A (p.Arg507Gln)
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) rs267606636
NM_030957.4(ADAMTS10):c.1568C>T (p.Thr523Met) rs782308360
NM_030957.4(ADAMTS10):c.1655C>G (p.Pro552Arg) rs1216168299
NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys)
NM_030957.4(ADAMTS10):c.1797+11C>A rs2042533385
NM_030957.4(ADAMTS10):c.1864C>T (p.Arg622Cys)
NM_030957.4(ADAMTS10):c.1893C>A (p.Tyr631Ter)
NM_030957.4(ADAMTS10):c.1901-13C>A rs782114199
NM_030957.4(ADAMTS10):c.198C>T (p.Arg66=) rs149789969
NM_030957.4(ADAMTS10):c.2005G>T (p.Val669Leu) rs144596955
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) rs267606637
NM_030957.4(ADAMTS10):c.2220C>T (p.Asn740=) rs886054713
NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg)
NM_030957.4(ADAMTS10):c.2404-9T>C rs2042432536
NM_030957.4(ADAMTS10):c.2421G>T (p.Glu807Asp) rs545953920
NM_030957.4(ADAMTS10):c.24C>A (p.Leu8=) rs1555742491
NM_030957.4(ADAMTS10):c.2530+9G>A rs782625211
NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr) rs1197418432
NM_030957.4(ADAMTS10):c.2707G>C (p.Gly903Arg)
NM_030957.4(ADAMTS10):c.2720G>A (p.Arg907His)
NM_030957.4(ADAMTS10):c.2888G>A (p.Gly963Asp)
NM_030957.4(ADAMTS10):c.292C>T (p.Leu98=) rs2042706336
NM_030957.4(ADAMTS10):c.2986C>T (p.Arg996Cys)
NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His) rs2042408557
NM_030957.4(ADAMTS10):c.3083T>G (p.Val1028Gly)
NM_030957.4(ADAMTS10):c.3159T>C (p.Cys1053=) rs886054711
NM_030957.4(ADAMTS10):c.3202+13C>T rs886054710
NM_030957.4(ADAMTS10):c.335T>C (p.Leu112Pro) rs782581897
NM_030957.4(ADAMTS10):c.373G>A (p.Ala125Thr) rs782138140
NM_030957.4(ADAMTS10):c.557G>T (p.Arg186Leu) rs781891774
NM_030957.4(ADAMTS10):c.629G>A (p.Arg210Gln)
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg) rs1555741490
NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln)
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) rs121434357
NM_030957.4(ADAMTS10):c.726_727del (p.Glu242fs)
NM_030957.4(ADAMTS10):c.811-149G>A rs7248483
NM_030957.4(ADAMTS10):c.834G>A (p.Ser278=) rs782449192
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) rs121434359

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