ClinVar Miner

List of variants reported by Genetics and Genomics Program, Sidra Medicine

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ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_001038705.3(GPR149):c.1404A>C (p.Arg468Ser) rs148319718 0.00105
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr) rs113879347 0.00072
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His) rs201004738 0.00043
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile) rs746094582 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_022064.5(RNF123):c.3491C>T (p.Pro1164Leu) rs61743872 0.00009
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) rs397516075 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys) rs199473048 0.00006
NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser) rs147393830 0.00006
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr) rs372276487 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His) rs539470256 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108 0.00006
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp) rs769704263 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile) rs751030250 0.00005
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 0.00005
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu) rs372608982 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_139125.4(MASP1):c.1927G>A (p.Val643Ile) rs765808321 0.00004
NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val) rs376580266 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr) rs761505396 0.00003
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met) rs750823043 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His) rs544353741 0.00003
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met) rs191708454 0.00003
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met) rs377334933 0.00003
NM_133379.5(TTN):c.12538T>A (p.Cys4180Ser) rs548549470 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu) rs527305885 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln) rs397517520 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001267550.2(TTN):c.3509C>T (p.Ser1170Phe) rs759110931 0.00002
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_003365.3(UQCRC1):c.826C>T (p.Arg276Cys) rs201911056 0.00002
NM_032588.4(TRIM63):c.220C>T (p.Arg74Cys) rs750066412 0.00002
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000232.5(SGCB):c.680G>A (p.Arg227His) rs762079028 0.00001
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly) rs2095879641 0.00001
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp) rs730880619 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met) rs772442923 0.00001
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys) rs746571601 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile) rs746350036 0.00001
NM_001035.3(RYR2):c.4850G>C (p.Trp1617Ser) rs1677785308 0.00001
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile) rs555692728 0.00001
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val) rs370868386 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.19900T>C (p.Tyr6634His) rs1211263186 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.21674T>C (p.Phe7225Ser) rs780534846 0.00001
NM_001267550.2(TTN):c.35338G>A (p.Glu11780Lys) rs2066744414 0.00001
NM_001267550.2(TTN):c.41282G>A (p.Arg13761His) rs781139091 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys) rs564432498 0.00001
NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr) rs778877970 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp) rs778211562 0.00001
NM_001267550.2(TTN):c.71348G>A (p.Arg23783His) rs145504744 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr) rs368527797 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys) rs531432790 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His) rs727503544 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) rs1314169075 0.00001
NM_002471.4(MYH6):c.5645G>A (p.Arg1882His) rs199755234 0.00001
NM_004006.3(DMD):c.*39A>T rs371730838 0.00001
NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys) rs78979794 0.00001
NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys) rs768172413 0.00001
NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe) rs373101027 0.00001
NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del) rs768838951
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
NM_000256.3(MYBPC3):c.654G>A (p.Lys218=) rs2095898361
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.4808C>T (p.Ala1603Val) rs1892198053
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000257.4(MYH7):c.5413C>A (p.Leu1805Ile) rs1892134324
NM_000257.4(MYH7):c.5769del (p.Ser1924fs) rs1892066954
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser) rs1187720404
NM_000426.4(LAMA2):c.4607C>T (p.Pro1536Leu) rs1776956586
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val) rs529981007
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_001010874.5(TECRL):c.296G>A (p.Trp99Ter)
NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2]) rs746462546
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001128840.3(CACNA1D):c.236C>A (p.Ser79Tyr)
NM_001134363.3(RBM20):c.150_153del (p.Pro52fs) rs1861841498
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) rs749563704
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) rs542297252
NM_001167912.2(VEPH1):c.418G>C (p.Gly140Arg)
NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys) rs1691401261
NM_001267550.2(TTN):c.1013G>A (p.Gly338Asp) rs2093698726
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala) rs764200285
NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala) rs143093473
NM_001267550.2(TTN):c.170_172del (p.Ser57del) rs2094107459
NM_001267550.2(TTN):c.18265G>A (p.Asp6089Asn) rs560203827
NM_001267550.2(TTN):c.21166G>A (p.Val7056Met) rs1306079131
NM_001267550.2(TTN):c.21988G>C (p.Glu7330Gln) rs2078661310
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe) rs550882549
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met) rs777730788
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.35225A>T (p.Lys11742Ile) rs2067070782
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.39020A>C (p.Lys13007Thr) rs532069408
NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del) rs765355244
NM_001267550.2(TTN):c.40133C>T (p.Pro13378Leu) rs2062187429
NM_001267550.2(TTN):c.40520G>A (p.Arg13507His) rs771858747
NM_001267550.2(TTN):c.40608del (p.Lys13536fs) rs1284446305
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.4498G>T (p.Asp1500Tyr) rs2092362997
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala) rs564121832
NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn) rs2054384818
NM_001267550.2(TTN):c.54327del (p.Lys18110fs) rs2054381012
NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp) rs1334608070
NM_001267550.2(TTN):c.56974C>T (p.Pro18992Ser) rs878938953
NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys) rs1407608886
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu) rs2049804283
NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr) rs2049345864
NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln) rs368450785
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) rs768049902
NM_001267550.2(TTN):c.66847G>A (p.Val22283Ile) rs554828165
NM_001267550.2(TTN):c.67271A>G (p.Tyr22424Cys)
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn) rs397517670
NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr) rs980974415
NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter) rs1198682781
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) rs1708504899
NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly) rs368071644
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.7501C>G (p.Arg2501Gly) rs781459488
NM_001267550.2(TTN):c.75296C>A (p.Ala25099Glu) rs1707934758
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.8674G>C (p.Glu2892Gln) rs763393324
NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala) rs1702238937
NM_001267550.2(TTN):c.90468G>T (p.Lys30156Asn) rs777057812
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187
NM_001267550.2(TTN):c.91363G>A (p.Val30455Met) rs766444853
NM_001267550.2(TTN):c.96613G>A (p.Val32205Met) rs372312129
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr) rs397516452
NM_001276345.2(TNNT2):c.847A>C (p.Lys283Gln) rs1553279294
NM_001388306.1(MIDN):c.1483G>A (p.Val495Met)
NM_001401501.2(MUC16):c.44440C>T (p.Arg14814Trp)
NM_002224.4(ITPR3):c.3058+2T>C
NM_002230.4(JUP):c.947T>G (p.Val316Gly) rs1915485566
NM_002230.4(JUP):c.986G>T (p.Trp329Leu) rs1915476980
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_003443.3(ZBTB17):c.709CAAGAGGAG[3] (p.237QEE[3]) rs573935183
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp) rs1408098337
NM_004326.4(BCL9):c.2423A>G (p.Gln808Arg)
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del) rs746833511
NM_005549.2(KCNA10):c.682A>G (p.Ile228Val)
NM_006514.4(SCN10A):c.44G>T (p.Arg15Leu)
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp) rs548487697
NM_014000.3(VCL):c.1973T>C (p.Val658Ala) rs372691803
NM_014000.3(VCL):c.2882C>A (p.Pro961Gln) rs754591130
NM_014391.3(ANKRD1):c.37_93dup (p.Lys13_Gly31dup) rs1564575040
NM_014391.3(ANKRD1):c.437C>T (p.Pro146Leu) rs1181799982
NM_014588.6(VSX1):c.644G>T (p.Arg215Leu)
NM_014908.4(DOLK):c.374C>A (p.Ser125Ter) rs1841682105
NM_016617.4(UFM1):c.2+1G>A
NM_020297.4(ABCC9):c.588C>G (p.Phe196Leu) rs1948583041
NM_020803.5(KLHL8):c.*2476_*2477del
NM_021096.4(CACNA1I):c.3427G>A (p.Glu1143Lys)
NM_024422.6(DSC2):c.1035T>G (p.Ile345Met) rs1255214987
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) rs754707304
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_053056.3(CCND1):c.76C>T (p.Arg26Trp)
NM_080683.3(PTPN13):c.4843A>C (p.Ser1615Arg)
NM_133379.5(TTN):c.11684T>C (p.Ile3895Thr) rs2085229392
NM_144573.4(NEXN):c.1175G>A (p.Arg392Gln) rs971313210
NM_144573.4(NEXN):c.1238A>G (p.Gln413Arg) rs1650473441
NM_144573.4(NEXN):c.826G>A (p.Glu276Lys) rs1649891198
NM_152564.5(VPS13B):c.3083-1G>C
NM_203397.3(MBLAC1):c.-28-1G>A

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