ClinVar Miner

List of variants studied for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_002470.4(MYH3):c.534-44T>C rs1989810 0.63169
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_002470.4(MYH3):c.1141+32G>A rs2239934 0.57301
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_005199.5(CHRNG):c.*351G>A rs111802317 0.00258
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_000751.3(CHRND):c.*365C>A rs112940737 0.00145
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752 0.00120
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034 0.00077
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_005199.5(CHRNG):c.*207T>C rs147814126 0.00065
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys) rs140623763 0.00057
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765 0.00038
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile) rs16829208 0.00021
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736 0.00019
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln) rs144755776 0.00018
NM_005199.5(CHRNG):c.426G>A (p.Pro142=) rs375894671 0.00017
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636 0.00016
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005199.5(CHRNG):c.573G>A (p.Glu191=) rs771417982 0.00012
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_005199.5(CHRNG):c.543G>A (p.Gln181=) rs753990044 0.00010
NM_005199.5(CHRNG):c.*194G>A rs975418556 0.00009
NM_005199.5(CHRNG):c.*131C>T rs566877095 0.00008
NM_005199.5(CHRNG):c.*201G>C rs144523413 0.00008
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788 0.00008
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228 0.00008
NM_005199.5(CHRNG):c.*126C>T rs369614677 0.00007
NM_005199.5(CHRNG):c.*388G>C rs914603576 0.00007
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) rs186589083 0.00007
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513 0.00006
NM_005199.5(CHRNG):c.806-13C>T rs375760045 0.00006
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00006
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635 0.00005
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val) rs142582718 0.00005
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_005199.5(CHRNG):c.*593T>C rs1033983635 0.00003
NM_005199.5(CHRNG):c.*7C>T rs1034629827 0.00003
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr) rs1222999452 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748 0.00003
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332 0.00002
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720 0.00002
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro) rs1360277075 0.00002
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089 0.00002
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr) rs376314818 0.00002
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728 0.00002
NM_005199.5(CHRNG):c.*69T>G rs1259742484 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln) rs755148348 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.394G>A (p.Val132Met) rs781249093 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.5A>T (p.His2Leu) rs775592546 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.779-12del rs67309103
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000751.3(CHRND):c.*144_*145insAG rs530814490
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.*623_*627dup rs886055785
NM_002470.4(MYH3):c.1141+131_3256del
NM_002470.4(MYH3):c.141T>G (p.Tyr47Ter) rs1567564042
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser) rs1597488038
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.1986_1990del (p.Asn662fs) rs771300756
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.204+1G>A
NM_002470.4(MYH3):c.2045C>A (p.Pro682Gln) rs2142402072
NM_002470.4(MYH3):c.2103G>C (p.Glu701Asp) rs2142401800
NM_002470.4(MYH3):c.2501T>C (p.Phe834Ser) rs2142400070
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.3007dup (p.Ala1003fs)
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3472A>C (p.Thr1158Pro)
NM_002470.4(MYH3):c.3872A>C (p.Gln1291Pro)
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
NM_002470.4(MYH3):c.4647+1G>A rs1567552713
NM_002470.4(MYH3):c.5457G>C (p.Arg1819Ser) rs2142378109
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114
NM_005199.5(CHRNG):c.*181T>C rs944288485
NM_005199.5(CHRNG):c.*291C>G rs1044726391
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.*508T>C rs886055787
NM_005199.5(CHRNG):c.*589_*590dup rs1553578775
NM_005199.5(CHRNG):c.*591_*592insTT rs1553578776
NM_005199.5(CHRNG):c.*592C>T rs72991940
NM_005199.5(CHRNG):c.*592_*598del rs199761478
NM_005199.5(CHRNG):c.*609_*612dup rs57021172
NM_005199.5(CHRNG):c.*611_*612dup rs57021172
NM_005199.5(CHRNG):c.1036-8CT[2] rs3217418
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn) rs1406594207
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) rs1055176338
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1227G>A (p.Val409=) rs1692086043
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.234A>T (p.Ile78=) rs1691992464
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_005199.5(CHRNG):c.257G>A (p.Arg86His)
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.350+4A>G
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu) rs144323121
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.55+5G>A
NM_005199.5(CHRNG):c.56-2A>G
NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter) rs2106221597
NM_005199.5(CHRNG):c.708C>T (p.Leu236=) rs1308873617
NM_005199.5(CHRNG):c.814del (p.Gln272fs) rs2106221927
NM_005199.5(CHRNG):c.895T>A (p.Ser299Thr) rs2106221995
NM_005199.5(CHRNG):c.921-68del rs10714586

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