ClinVar Miner

List of variants reported as benign for arthrogryposis syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 379
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_020639.3(RIPK4):c.1996A>G (p.Met666Val) rs3746891 0.98229
NM_001999.4(FBN2):c.*635A>G rs27858 0.97464
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) rs7139095 0.95112
NM_002472.3(MYH8):c.714T>C (p.Thr238=) rs8068729 0.86257
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_020639.3(RIPK4):c.*90T>C rs6586232 0.79267
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=) rs3744552 0.59381
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
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.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_018668.5(VPS33B):c.-325T>C rs11073967 0.57234
NM_002465.4(MYBPC1):c.*78G>A rs2764 0.55606
NM_020639.3(RIPK4):c.1548C>T (p.Asp516=) rs2838113 0.53199
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834 0.50046
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_001999.4(FBN2):c.-309A>G rs7732639 0.45240
NM_020639.3(RIPK4):c.2331G>A (p.Thr777=) rs7276592 0.41978
NM_020639.3(RIPK4):c.1476G>A (p.Ala492=) rs3746893 0.41949
NM_020639.3(RIPK4):c.1203C>T (p.Gly401=) rs3746894 0.41922
NM_020639.3(RIPK4):c.*560A>G rs3746890 0.41259
NM_020639.3(RIPK4):c.*782_*783dup rs34075882 0.40146
NM_020639.3(RIPK4):c.1005G>T (p.Leu335=) rs2277789 0.38050
NM_020639.3(RIPK4):c.*983G>A rs3171532 0.36576
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_002472.3(MYH8):c.-31G>A rs2277648 0.30852
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) rs2293468 0.29320
NM_001999.4(FBN2):c.*733T>A rs13305 0.27788
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) rs2275260 0.26894
NM_001999.4(FBN2):c.*1415G>A rs1050687 0.26267
NM_213674.1(TPM2):c.-137T>A rs3793540 0.23673
NM_213674.1(TPM2):c.-136T>A rs3793539 0.23669
NM_213674.1(TPM2):c.-135T>A rs3793538 0.23661
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_001003722.2(GLE1):c.*73G>A rs10760563 0.20436
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) rs764291 0.20383
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
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_002472.3(MYH8):c.5208C>T (p.Asp1736=) rs33969260 0.17467
NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly) rs6586239 0.15988
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) rs3817552 0.14585
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_020639.3(RIPK4):c.159G>A (p.Ser53=) rs6586238 0.14219
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626 0.14064
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_020639.3(RIPK4):c.360A>C (p.Arg120=) rs13049286 0.13916
NM_020639.3(RIPK4):c.327T>C (p.Ala109=) rs2277791 0.13904
NM_002465.4(MYBPC1):c.-75G>T rs1697477 0.13668
NM_001999.4(FBN2):c.*1277G>A rs7288 0.13531
NM_018668.5(VPS33B):c.1105+9C>T rs3826033 0.13431
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) rs2070169 0.13373
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11254
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.*57C>T rs45617144 0.10726
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) rs825045 0.08992
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_003334.4(UBA1):c.2220G>A (p.Pro740=) rs2230147 0.08755
NM_003334.4(UBA1):c.1742-11G>C rs5953010 0.08744
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_018668.5(VPS33B):c.1656A>T (p.Thr552=) rs16945153 0.05737
NM_001003722.2(GLE1):c.*181C>A rs10513496 0.05473
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val) rs34693726 0.05120
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_002472.3(MYH8):c.2016C>T (p.Phe672=) rs12936716 0.05000
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_001999.4(FBN2):c.*819A>G rs72783099 0.03528
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_018668.5(VPS33B):c.609A>G (p.Ala203=) rs76867988 0.02746
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_001999.4(FBN2):c.-435C>T rs78230270 0.02535
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_002465.4(MYBPC1):c.2809+12T>C rs11110952 0.01947
NM_018668.5(VPS33B):c.648C>T (p.Gly216=) rs59648701 0.01941
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_005055.5(RAPSN):c.*207C>A rs73459751 0.01891
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_020639.3(RIPK4):c.1587G>A (p.Ser529=) rs61740546 0.01687
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01571
NM_002465.4(MYBPC1):c.556+9G>A rs112788142 0.01527
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_020639.3(RIPK4):c.1425G>A (p.Leu475=) rs56092943 0.01339
NM_020639.3(RIPK4):c.117G>A (p.Val39=) rs147023104 0.01319
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_002470.4(MYH3):c.349-7C>T rs114366800 0.01261
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01244
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys) rs138310419 0.01201
NM_002465.4(MYBPC1):c.*45C>T rs73390504 0.01171
NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser) rs199825512 0.01162
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_020639.3(RIPK4):c.1311C>T (p.Ser437=) rs56149248 0.01122
NM_001999.4(FBN2):c.*1132A>G rs77373296 0.01086
NM_020639.3(RIPK4):c.1119G>T (p.Gly373=) rs61744790 0.01056
NM_020639.3(RIPK4):c.*707G>A rs115461340 0.01049
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_001999.4(FBN2):c.-262C>T rs540026322 0.00943
NM_002465.4(MYBPC1):c.26-9C>T rs181619118 0.00935
NM_001003722.2(GLE1):c.*387C>G rs78624767 0.00891
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001003722.2(GLE1):c.*1005T>C rs4466499 0.00804
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_020639.3(RIPK4):c.*550C>G rs113816274 0.00795
NM_002465.4(MYBPC1):c.-93C>T rs78173516 0.00794
NM_002470.4(MYH3):c.774G>A (p.Lys258=) rs16943598 0.00793
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00792
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_000079.4(CHRNA1):c.*426C>A rs115375214 0.00774
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=) rs148071246 0.00686
NM_003334.4(UBA1):c.2308A>C (p.Asn770His) rs143044923 0.00683
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_002470.4(MYH3):c.453C>T (p.Ala151=) rs7214436 0.00621
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_003282.4(TNNI2):c.150G>A (p.Pro50=) rs139820259 0.00584
NM_000079.4(CHRNA1):c.*218C>T rs79539026 0.00579
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_003334.4(UBA1):c.2364C>T (p.Ala788=) rs2228658 0.00548
NM_002465.4(MYBPC1):c.608+14A>G rs4448745 0.00545
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_002465.4(MYBPC1):c.*169G>T rs115971493 0.00526
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_020639.3(RIPK4):c.*1025G>T rs73216989 0.00478
NM_002465.4(MYBPC1):c.-46C>T rs148011345 0.00469
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_002465.4(MYBPC1):c.608+9A>G rs183524782 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_018668.5(VPS33B):c.-271A>C rs116461458 0.00418
NM_018668.5(VPS33B):c.1332G>A (p.Thr444=) rs147407982 0.00416
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_020639.3(RIPK4):c.1617G>A (p.Thr539=) rs61740535 0.00411
NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala) rs149213047 0.00398
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_020639.3(RIPK4):c.*747T>A rs188837957 0.00375
NM_000751.3(CHRND):c.*1240T>C rs77032539 0.00369
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=) rs138170393 0.00369
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_003282.4(TNNI2):c.453+3G>A rs200300133 0.00354
NM_002470.4(MYH3):c.2683-4T>C rs182229640 0.00350
NM_003282.4(TNNI2):c.*94C>T rs117830156 0.00349
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.*1532G>A rs191801589 0.00278
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln) rs148382699 0.00253
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=) rs139978727 0.00252
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=) rs114770362 0.00250
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.1566C>A (p.Ile522=) rs146873206 0.00236
NM_001999.4(FBN2):c.*1191C>T rs557229598 0.00234
NM_001999.4(FBN2):c.*273T>C rs142804569 0.00234
NM_002465.4(MYBPC1):c.438+9C>G rs186857045 0.00230
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser) rs146732664 0.00220
NM_002470.4(MYH3):c.2289+4A>G rs111835858 0.00218
NM_001003722.2(GLE1):c.433-15A>C rs752897261 0.00213
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_002470.4(MYH3):c.-63G>A rs141754213 0.00209
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) rs112858125 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_002470.4(MYH3):c.1932C>T (p.Ser644=) rs115612890 0.00194
NM_002465.4(MYBPC1):c.420C>T (p.Thr140=) rs140667525 0.00188
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_002465.4(MYBPC1):c.*19+3A>G rs2303628 0.00146
NM_006757.4(TNNT3):c.480+10G>T rs188255267 0.00143
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_018668.5(VPS33B):c.-7C>G rs2289617 0.00117
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys) rs138048478 0.00111
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_002470.4(MYH3):c.2883C>A (p.Thr961=) rs144338240 0.00096
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_003334.4(UBA1):c.909+12G>A rs367556596 0.00095
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_001999.4(FBN2):c.-269A>G rs149771492 0.00089
NM_020639.3(RIPK4):c.303G>A (p.Thr101=) rs2277792 0.00088
NM_001999.4(FBN2):c.*514A>C rs551470283 0.00087
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_002465.4(MYBPC1):c.-13T>C rs368264809 0.00079
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_001999.4(FBN2):c.*119C>T rs3805618 0.00067
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00063
NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=) rs201984898 0.00059
NM_002470.4(MYH3):c.166C>G (p.Gln56Glu) rs143973840 0.00058
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002470.4(MYH3):c.4647+6T>G rs375163919 0.00054
NM_002470.4(MYH3):c.4635C>T (p.Leu1545=) rs74406856 0.00051
NM_002470.4(MYH3):c.3072C>G (p.Thr1024=) rs139544273 0.00050
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln) rs139605474 0.00046
NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=) rs149742717 0.00046
NM_002470.4(MYH3):c.3270A>G (p.Gln1090=) rs144312976 0.00045
NM_002470.4(MYH3):c.5301G>A (p.Ala1767=) rs151028057 0.00045
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_002470.4(MYH3):c.1881G>A (p.Thr627=) rs140144159 0.00035
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00035
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) rs369843264 0.00035
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00033
NM_001999.4(FBN2):c.*274C>T rs140550329 0.00030
NM_002470.4(MYH3):c.1521C>T (p.Ile507=) rs140685610 0.00029
NM_002470.4(MYH3):c.412G>A (p.Glu138Lys) rs191837780 0.00029
NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln) rs142002449 0.00028
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=) rs377092561 0.00028
NM_002470.4(MYH3):c.5161-13C>T rs201674457 0.00026
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_002470.4(MYH3):c.3468C>T (p.Gly1156=) rs193224181 0.00023
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) rs147825775 0.00023
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_002470.4(MYH3):c.3389G>A (p.Arg1130His) rs184919169 0.00022
NM_003282.4(TNNI2):c.333A>G (p.Pro111=) rs201133081 0.00021
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_002465.4(MYBPC1):c.192C>T (p.Val64=) rs143380884 0.00020
NM_002470.4(MYH3):c.5797-12C>G rs374799651 0.00018
NM_002470.4(MYH3):c.642+8T>C rs370685666 0.00018
NM_002470.4(MYH3):c.3993G>A (p.Ala1331=) rs137974114 0.00017
NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr) rs201488879 0.00015
NM_002465.4(MYBPC1):c.*317C>A rs192569541 0.00014
NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly) rs201921739 0.00014
NM_002470.4(MYH3):c.*31T>G rs201532275 0.00014
NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly) rs200191762 0.00014
NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val) rs375904355 0.00013
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 0.00010
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002470.4(MYH3):c.5331C>T (p.Ser1777=) rs200111154 0.00010
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_002465.4(MYBPC1):c.178+7G>A rs376040468 0.00008
NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) rs201472372 0.00008
NM_020639.3(RIPK4):c.1980C>T (p.Gly660=) rs144946647 0.00008
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=) rs141026830 0.00007
NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=) rs764196097 0.00007
NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg) rs200780612 0.00007
NM_003334.4(UBA1):c.720C>T (p.His240=) rs193168226 0.00007
NM_001999.4(FBN2):c.-122G>T rs557716482 0.00006
NM_002470.4(MYH3):c.3039T>C (p.Ala1013=) rs142131471 0.00006
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00006
NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly) rs147304568 0.00006
NM_003334.4(UBA1):c.351C>T (p.Tyr117=) rs782799228 0.00006
NM_003334.4(UBA1):c.1543C>A (p.Arg515=) rs150198324 0.00005
NM_003334.4(UBA1):c.2839-7C>T rs199797125 0.00005
NM_002465.4(MYBPC1):c.104-10C>A rs373075518 0.00004
NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys) rs768199021 0.00004
NM_002470.4(MYH3):c.2517C>A (p.Pro839=) rs577088293 0.00004
NM_002470.4(MYH3):c.4323C>T (p.Ala1441=) rs185355384 0.00004
NM_002470.4(MYH3):c.4941C>T (p.Val1647=) rs143855213 0.00004
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_002465.4(MYBPC1):c.557-10C>T rs529365953 0.00003
NM_002465.4(MYBPC1):c.750C>A (p.Ile250=) rs761503353 0.00003
NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile) rs542491960 0.00003
NM_003289.4(TPM2):c.-65C>T rs377242459 0.00003
NM_006757.4(TNNT3):c.*86C>T rs200540491 0.00003
NM_002470.4(MYH3):c.1888+10G>A rs759205757 0.00002
NM_002470.4(MYH3):c.19A>G (p.Met7Val) rs191571748 0.00002
NM_002470.4(MYH3):c.571C>T (p.Arg191Trp) rs368171012 0.00002
NM_003334.4(UBA1):c.2928C>T (p.Leu976=) rs782070102 0.00002
NM_001999.4(FBN2):c.-147C>T rs571337177 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val) rs200949332 0.00001
NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=) rs772332498 0.00001
NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys) rs761684970 0.00001
NC_000001.11:g.209806184A>T rs34743335
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_001003722.2(GLE1):c.*907G>C rs55823126
NM_001999.4(FBN2):c.*962C>G rs565071757
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=) rs149779416
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) rs199513213
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu) rs373367650
NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr) rs752510156
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) rs537656234
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5562+11C>T rs376208076
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=) rs3744553
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.430G>A (p.Val144Ile) rs781887272
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_020639.3(RIPK4):c.*215G>C rs115041500
NM_020639.3(RIPK4):c.630G>C (p.Ala210=) rs2838114

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