ClinVar Miner

List of variants studied for Symmetrical dyschromatosis of extremities by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.78G>A (p.Arg26=) rs1802645 0.99723
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_001111.5(ADAR):c.*1016C>T rs1127314 0.59417
NM_001111.5(ADAR):c.*1790A>G rs1127326 0.59410
NM_001111.5(ADAR):c.*619C>T rs1127311 0.41540
NM_001111.5(ADAR):c.*857C>T rs1127313 0.41404
NM_001111.5(ADAR):c.3443+8G>A rs9427094 0.40966
NM_001111.5(ADAR):c.*1242A>C rs1127317 0.29977
NM_001111.5(ADAR):c.2682G>A (p.Val894=) rs1127309 0.29372
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_001111.5(ADAR):c.*1549T>A rs9616 0.21349
NM_001111.5(ADAR):c.*943C>A rs34167604 0.02238
NM_001111.5(ADAR):c.*938A>C rs147862510 0.00621
NM_001111.5(ADAR):c.*413A>T rs115205788 0.00367
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001111.5(ADAR):c.*1436G>T rs144500439 0.00255
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757 0.00235
NM_001111.5(ADAR):c.*2199C>T rs140535856 0.00229
NM_001111.5(ADAR):c.*2033G>A rs571724294 0.00210
NM_001111.5(ADAR):c.2079+8G>A rs376867928 0.00139
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_001111.5(ADAR):c.*844G>C rs181589660 0.00134
NM_001111.5(ADAR):c.*2623C>T rs112827019 0.00111
NM_001111.5(ADAR):c.*2643G>A rs539051807 0.00084
NM_001111.5(ADAR):c.*368G>A rs558906089 0.00079
NM_001111.5(ADAR):c.*245T>C rs376176238 0.00077
NM_001111.5(ADAR):c.*898G>A rs140910871 0.00063
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_001111.5(ADAR):c.*2586C>T rs559398617 0.00042
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055 0.00042
NM_001111.5(ADAR):c.*1751T>G rs748291356 0.00040
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561 0.00039
NM_001111.5(ADAR):c.-151A>G rs557295499 0.00028
NM_001111.5(ADAR):c.*301C>T rs986381538 0.00020
NM_001111.5(ADAR):c.*1397C>T rs201602333 0.00018
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106 0.00014
NM_001111.5(ADAR):c.2497-15C>T rs113249520 0.00014
NM_001111.5(ADAR):c.1934+8C>T rs376025865 0.00013
NM_001111.5(ADAR):c.*612A>T rs985271768 0.00011
NM_001111.5(ADAR):c.*323G>C rs886045334 0.00010
NM_001111.5(ADAR):c.*60G>A rs772429851 0.00010
NM_001111.5(ADAR):c.1392T>C (p.Asn464=) rs370763473 0.00009
NM_001111.5(ADAR):c.1851C>A (p.Thr617=) rs764879657 0.00009
NM_001111.5(ADAR):c.*884C>T rs556661959 0.00006
NM_001111.5(ADAR):c.57C>T (p.Gly19=) rs137983302 0.00006
NM_001111.5(ADAR):c.*1344G>A rs550673541 0.00005
NM_001111.5(ADAR):c.*885G>A rs149774073 0.00005
NM_001111.5(ADAR):c.1934+12G>A rs776357782 0.00005
NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser) rs755535385 0.00005
NM_001111.5(ADAR):c.*2316G>A rs200367762 0.00004
NM_001111.5(ADAR):c.*2317C>T rs367964862 0.00004
NM_001111.5(ADAR):c.*590G>A rs908072891 0.00004
NM_001111.5(ADAR):c.*989C>T rs1485739737 0.00004
NM_001111.5(ADAR):c.-85G>A rs1470901197 0.00004
NM_001111.5(ADAR):c.2319C>T (p.Cys773=) rs750666914 0.00004
NM_001111.5(ADAR):c.2762+10G>A rs879809934 0.00004
NM_001111.5(ADAR):c.*1406A>C rs886045325 0.00003
NM_001111.5(ADAR):c.*468G>A rs886045332 0.00003
NM_001111.5(ADAR):c.-48A>G rs567807827 0.00003
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032 0.00003
NM_001111.5(ADAR):c.642C>T (p.Asp214=) rs781005907 0.00003
NM_001111.5(ADAR):c.*1728C>T rs886045322 0.00002
NM_001111.5(ADAR):c.*2636G>A rs1019588923 0.00002
NM_001111.5(ADAR):c.*317T>G rs886045335 0.00002
NM_001111.5(ADAR):c.*319del rs774214510 0.00002
NM_001111.5(ADAR):c.-154C>T rs1470021699 0.00002
NM_001111.5(ADAR):c.1785+5G>A rs17843866 0.00002
NM_001111.5(ADAR):c.3519C>T (p.Tyr1173=) rs755264415 0.00002
NM_001111.5(ADAR):c.*1454C>G rs967668970 0.00001
NM_001111.5(ADAR):c.*1614T>A rs530015999 0.00001
NM_001111.5(ADAR):c.*1871A>G rs1228582826 0.00001
NM_001111.5(ADAR):c.*25G>C rs780228174 0.00001
NM_001111.5(ADAR):c.*479T>C rs185835529 0.00001
NM_001111.5(ADAR):c.*527A>G rs886045330 0.00001
NM_001111.5(ADAR):c.*812C>T rs747246150 0.00001
NM_001111.5(ADAR):c.*825G>A rs145743236 0.00001
NM_001111.5(ADAR):c.-71T>C rs886045346 0.00001
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg) rs770795921 0.00001
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) rs1190740301 0.00001
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049 0.00001
NM_001111.5(ADAR):c.2415A>G (p.Thr805=) rs1298874562 0.00001
NM_001111.5(ADAR):c.2496+8C>T rs770464278 0.00001
NM_001111.5(ADAR):c.2669-9C>T rs777184958 0.00001
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu) rs886045339 0.00001
NM_001111.5(ADAR):c.3645C>G (p.Pro1215=) rs886045338 0.00001
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) rs199906332 0.00001
NM_001111.5(ADAR):c.*1036C>G rs886045327
NM_001111.5(ADAR):c.*1104T>C rs886045326
NM_001111.5(ADAR):c.*110dup rs886045337
NM_001111.5(ADAR):c.*1192C>T rs931843098
NM_001111.5(ADAR):c.*1221C>T rs1696549699
NM_001111.5(ADAR):c.*1322A>G rs1237025828
NM_001111.5(ADAR):c.*1336A>G rs1385402270
NM_001111.5(ADAR):c.*1566T>G rs886045324
NM_001111.5(ADAR):c.*1712C>G rs886045323
NM_001111.5(ADAR):c.*1799_*1800del rs886045321
NM_001111.5(ADAR):c.*1919T>G rs1198048286
NM_001111.5(ADAR):c.*206T>G rs886045336
NM_001111.5(ADAR):c.*2134T>C rs1696483286
NM_001111.5(ADAR):c.*2153T>C rs1696482158
NM_001111.5(ADAR):c.*2323_*2330dup rs113414804
NM_001111.5(ADAR):c.*2727dup rs754401167
NM_001111.5(ADAR):c.*361C>G rs886045333
NM_001111.5(ADAR):c.*503_*505del rs145794645
NM_001111.5(ADAR):c.*517AG[1] rs16361
NM_001111.5(ADAR):c.*519del rs886045331
NM_001111.5(ADAR):c.*714G>A rs886045329
NM_001111.5(ADAR):c.*749G>A rs886045328
NM_001111.5(ADAR):c.1113T>C (p.Ser371=) rs780284489
NM_001111.5(ADAR):c.1300C>T (p.Pro434Ser) rs749677748
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn) rs759763367
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser) rs761708272
NM_001111.5(ADAR):c.1405G>T (p.Ala469Ser) rs886045343
NM_001111.5(ADAR):c.1450A>G (p.Ser484Gly) rs886045342
NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg) rs770224427
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg) rs886045341
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2270+10C>T rs1697527897
NM_001111.5(ADAR):c.2306T>C (p.Phe769Ser) rs886045340
NM_001111.5(ADAR):c.2330A>G (p.Lys777Arg) rs1197574959
NM_001111.5(ADAR):c.2763-7T>C rs1696928206
NM_001111.5(ADAR):c.3081C>T (p.Leu1027=) rs145851568
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.3520C>G (p.Arg1174Gly) rs1243173166
NM_001111.5(ADAR):c.394G>A (p.Glu132Lys) rs1697933888
NM_001111.5(ADAR):c.739G>A (p.Ala247Thr) rs886045344
NM_001111.5(ADAR):c.751C>G (p.Gln251Glu) rs777881995
NM_001111.5(ADAR):c.866A>G (p.Asp289Gly) rs1697896792

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