ClinVar Miner

List of variants studied for Dilated cardiomyopathy 3B by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 210
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_004006.3(DMD):c.*1447A>G rs3361 0.34706
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_004006.3(DMD):c.*1799G>T rs16989350 0.03110
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_004006.3(DMD):c.-8T>A rs113726961 0.02450
NM_004006.3(DMD):c.*1783A>G rs7886658 0.02227
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.*1285C>A rs142110702 0.02124
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_004006.3(DMD):c.*1638A>G rs142520583 0.01412
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_004006.3(DMD):c.*38G>A rs16989352 0.00785
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_004006.3(DMD):c.*1731A>C rs3198427 0.00632
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_004006.3(DMD):c.*2039C>A rs72466523 0.00578
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_004006.3(DMD):c.*1031G>A rs112666076 0.00365
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004006.3(DMD):c.*477T>C rs764294071 0.00278
NM_004006.3(DMD):c.*571A>G rs192963364 0.00275
NM_004006.3(DMD):c.*1588_*1591dup rs771242421 0.00233
NM_004006.3(DMD):c.*855G>A rs150236690 0.00211
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_004006.3(DMD):c.*1705A>G rs145632098 0.00140
NM_004006.3(DMD):c.*489C>T rs45549534 0.00133
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_004006.3(DMD):c.*1023G>A rs111354150 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.*2268C>T rs746158689 0.00075
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004006.3(DMD):c.*2103T>A rs916737131 0.00041
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004006.3(DMD):c.*1035A>G rs112754560 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004006.3(DMD):c.9564-5A>G rs201390145 0.00035
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_004006.3(DMD):c.*1349T>G rs764825924 0.00028
NM_004006.3(DMD):c.*1455C>A rs191747923 0.00023
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_004006.3(DMD):c.7310-7A>G rs373230021 0.00023
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.3666T>C (p.Asn1222=) rs373281760 0.00020
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00020
NM_004006.3(DMD):c.*848C>T rs934447597 0.00019
NM_004006.3(DMD):c.6471T>A (p.Thr2157=) rs377080659 0.00019
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) rs202008454 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu) rs148135406 0.00018
NM_004006.3(DMD):c.8974G>A (p.Val2992Met) rs201691420 0.00016
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln) rs141151675 0.00013
NM_004006.3(DMD):c.9033G>A (p.Pro3011=) rs774722438 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser) rs200213555 0.00010
NM_004006.3(DMD):c.-75G>A rs778938887 0.00009
NM_004006.3(DMD):c.530+7A>T rs72470523 0.00009
NM_004006.3(DMD):c.*237T>C rs955717911 0.00008
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00007
NM_004006.3(DMD):c.*1917G>A rs997378803 0.00006
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln) rs148511512 0.00006
NM_004006.3(DMD):c.*1005T>G rs905224596 0.00005
NM_004006.3(DMD):c.-155C>T rs960566728 0.00005
NM_004006.3(DMD):c.1688G>A (p.Arg563His) rs191197223 0.00005
NM_004006.3(DMD):c.2245A>G (p.Ile749Val) rs771803281 0.00005
NM_004006.3(DMD):c.2612A>C (p.Lys871Thr) rs398123899 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.4845+4A>T rs368357171 0.00005
NM_004006.3(DMD):c.5204G>A (p.Arg1735His) rs757412063 0.00005
NM_004006.3(DMD):c.1083A>G (p.Thr361=) rs767325921 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.1602+13T>A rs772364333 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile) rs201532491 0.00004
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys) rs142128738 0.00004
NM_004006.3(DMD):c.1704+9T>C rs765811715 0.00003
NM_004006.3(DMD):c.3921+12A>G rs760373690 0.00003
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe) rs187617705 0.00003
NM_004006.3(DMD):c.626T>C (p.Ile209Thr) rs372832497 0.00003
NM_004006.3(DMD):c.6284G>T (p.Arg2095Leu) rs370638522 0.00003
NM_004006.3(DMD):c.8563T>C (p.Leu2855=) rs750917672 0.00003
NM_004006.3(DMD):c.*1339G>C rs1057515858 0.00002
NM_004006.3(DMD):c.*704C>T rs1057515863 0.00002
NM_004006.3(DMD):c.1432C>T (p.Pro478Ser) rs375337020 0.00002
NM_004006.3(DMD):c.1896G>A (p.Lys632=) rs766723466 0.00002
NM_004006.3(DMD):c.2210G>A (p.Arg737His) rs773358704 0.00002
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser) rs373428963 0.00002
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser) rs1057515872 0.00002
NM_004006.3(DMD):c.5827A>G (p.Met1943Val) rs181849614 0.00002
NM_004006.3(DMD):c.5923-4C>G rs780118536 0.00002
NM_004006.3(DMD):c.6912+7C>T rs779161941 0.00002
NM_004006.3(DMD):c.7359A>G (p.Glu2453=) rs780283825 0.00002
NM_004006.3(DMD):c.956C>T (p.Ser319Leu) rs765986138 0.00002
NM_004006.3(DMD):c.*2314T>C rs1057515853 0.00001
NM_004006.3(DMD):c.*2328G>A rs901774706 0.00001
NM_004006.3(DMD):c.*2563G>A rs188558013 0.00001
NM_004006.3(DMD):c.10146C>G (p.Thr3382=) rs766427132 0.00001
NM_004006.3(DMD):c.10711C>T (p.Arg3571Cys) rs1221893618 0.00001
NM_004006.3(DMD):c.1616G>A (p.Arg539Gln) rs1057515876 0.00001
NM_004006.3(DMD):c.1841A>C (p.Lys614Thr) rs771660778 0.00001
NM_004006.3(DMD):c.2146G>C (p.Val716Leu) rs886043081 0.00001
NM_004006.3(DMD):c.245G>A (p.Arg82Gln) rs1228664222 0.00001
NM_004006.3(DMD):c.3030G>A (p.Ala1010=) rs72468666 0.00001
NM_004006.3(DMD):c.3093G>T (p.Lys1031Asn) rs1220406312 0.00001
NM_004006.3(DMD):c.3169A>G (p.Ile1057Val) rs1057515874 0.00001
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr) rs398123940 0.00001
NM_004006.3(DMD):c.5567C>T (p.Thr1856Ile) rs148246460 0.00001
NM_004006.3(DMD):c.5728A>C (p.Arg1910=) rs761647447 0.00001
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly) rs985546923 0.00001
NM_004006.3(DMD):c.5964C>T (p.Asp1988=) rs1057515869 0.00001
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr) rs767681834 0.00001
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly) rs139937177 0.00001
NM_004006.3(DMD):c.7200+9G>A rs748786108 0.00001
NM_004006.3(DMD):c.8181C>T (p.Asp2727=) rs767417979 0.00001
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn) rs965718917 0.00001
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu) rs151087470 0.00001
NM_004006.3(DMD):c.9324T>G (p.Thr3108=) rs766256437 0.00001
NM_000116.5(TAZ):c.-119=
NM_004006.3(DMD):c.*1033TGAT[4] rs71860126
NM_004006.3(DMD):c.*1033TGAT[6] rs71860126
NM_004006.3(DMD):c.*1049T>C rs1057515860
NM_004006.3(DMD):c.*1161_*1164dup rs1057515859
NM_004006.3(DMD):c.*1421TAAA[3] rs1057515857
NM_004006.3(DMD):c.*1448_*1449insAAGA rs1057515856
NM_004006.3(DMD):c.*1554TAAG[4] rs758612124
NM_004006.3(DMD):c.*1754TTCA[1] rs751300992
NM_004006.3(DMD):c.*192G>A rs1057515866
NM_004006.3(DMD):c.*2031_*2034dup rs1057515855
NM_004006.3(DMD):c.*2037_*2038dup rs200703281
NM_004006.3(DMD):c.*218G>A rs2032592904
NM_004006.3(DMD):c.*2226AAGT[4] rs202154420
NM_004006.3(DMD):c.*2234_*2238dup rs1057515854
NM_004006.3(DMD):c.*2585T>G rs2031932105
NM_004006.3(DMD):c.*461CA[10] rs386416845
NM_004006.3(DMD):c.*461CA[9] rs386416845
NM_004006.3(DMD):c.*479CA[6] rs763028610
NM_004006.3(DMD):c.*479CA[9] rs763028610
NM_004006.3(DMD):c.*505A>G rs2032491980
NM_004006.3(DMD):c.*803GTCA[3] rs1057515862
NM_004006.3(DMD):c.*809C>T rs138956803
NM_004006.3(DMD):c.*942AAGTA[4] rs745368386
NM_004006.3(DMD):c.-114dup rs72470542
NM_004006.3(DMD):c.-123T>C rs760595740
NM_004006.3(DMD):c.-22G>A rs780710916
NM_004006.3(DMD):c.1249G>C (p.Glu417Gln) rs1057515877
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2894C>A (p.Pro965His) rs2040720617
NM_004006.3(DMD):c.2939G>A (p.Gly980Glu) rs1057515875
NM_004006.3(DMD):c.3450G>T (p.Glu1150Asp) rs142967431
NM_004006.3(DMD):c.3527C>A (p.Ala1176Asp) rs2098348910
NM_004006.3(DMD):c.4120G>A (p.Glu1374Lys) rs1557340452
NM_004006.3(DMD):c.4244C>G (p.Ser1415Cys) rs1569560771
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.4942T>G (p.Leu1648Val) rs138472027
NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro) rs1057515873
NM_004006.3(DMD):c.5361C>T (p.Asn1787=) rs1057515871
NM_004006.3(DMD):c.5481G>T (p.Leu1827Phe) rs794727612
NM_004006.3(DMD):c.6291-10T>C rs758023750
NM_004006.3(DMD):c.7032A>G (p.Leu2344=) rs1556962392
NM_004006.3(DMD):c.7084C>T (p.Pro2362Ser) rs2093949947
NM_004006.3(DMD):c.7236G>A (p.Ala2412=) rs149003002
NM_004006.3(DMD):c.7237G>A (p.Val2413Ile) rs373604575
NM_004006.3(DMD):c.7366A>G (p.Ile2456Val) rs1467855560
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.8888T>C (p.Val2963Ala) rs1057515867
NM_004006.3(DMD):c.94-9dup rs3834997

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