ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1S

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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00009
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.2877G>A (p.Leu959=) rs886039162 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.3479A>G (p.Gln1160Arg) rs1376667533 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met) rs397516235 0.00002
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln) rs146778113 0.00002
NM_000257.4(MYH7):c.5283+1G>A rs775803553 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000257.4(MYH7):c.*81G>A rs938515730 0.00001
NM_000257.4(MYH7):c.1000-13G>T rs772831757 0.00001
NM_000257.4(MYH7):c.1139-4C>T rs886050422 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg) rs1298804415 0.00001
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=) rs747004925 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 0.00001
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile) rs201195256 0.00001
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) rs1555337102 0.00001
NM_000257.4(MYH7):c.3778C>T (p.Arg1260Trp) rs755386220 0.00001
NM_000257.4(MYH7):c.3847G>A (p.Glu1283Lys) rs1892375580 0.00001
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) rs180824037 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) rs750987717 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5639G>A (p.Arg1880His) rs867477685 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=) rs148420672 0.00001
NM_000257.4(MYH7):c.639+13C>T rs1346778409 0.00001
NM_000257.4(MYH7):c.801T>C (p.Leu267=) rs1171861442 0.00001
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.11887G>A (p.Gly3963Arg) rs1000514079 0.00001
NM_001267550.2(TTN):c.92595A>C (p.Leu30865Phe) rs192086736 0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189 0.00001
NM_000257.4(MYH7):c.1046T>G (p.Met349Arg) rs121913640
NM_000257.4(MYH7):c.1105C>T (p.Arg369Trp) rs1318155896
NM_000257.4(MYH7):c.1138+7G>A rs886050423
NM_000257.4(MYH7):c.1255C>A (p.Gln419Lys) rs1566535300
NM_000257.4(MYH7):c.1407T>G (p.Asp469Glu)
NM_000257.4(MYH7):c.1614C>A (p.Cys538Ter) rs1892756939
NM_000257.4(MYH7):c.1792A>G (p.Lys598Glu) rs1057518305
NM_000257.4(MYH7):c.1894_1896del (p.Glu632del)
NM_000257.4(MYH7):c.2424-7C>T rs759141144
NM_000257.4(MYH7):c.2581G>A (p.Glu861Lys) rs868789318
NM_000257.4(MYH7):c.2649G>T (p.Glu883Asp) rs140434009
NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys) rs869130333
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) rs886050421
NM_000257.4(MYH7):c.2951G>T (p.Gly984Val) rs1892575677
NM_000257.4(MYH7):c.2955G>A (p.Leu985=) rs886050420
NM_000257.4(MYH7):c.3112C>G (p.Leu1038Val)
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3539A>C (p.Glu1180Ala) rs1314524948
NM_000257.4(MYH7):c.3558G>A (p.Glu1186=) rs1415340981
NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys) rs886039090
NM_000257.4(MYH7):c.3690C>G (p.Asp1230Glu) rs370750044
NM_000257.4(MYH7):c.3994G>C (p.Ala1332Pro)
NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys) rs1566526272
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4169+6T>G rs886050417
NM_000257.4(MYH7):c.4176G>T (p.Lys1392Asn) rs2502252331
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln) rs370069461
NM_000257.4(MYH7):c.4361C>A (p.Ala1454Asp) rs1892259980
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4532A>T (p.Asp1511Val) rs730880802
NM_000257.4(MYH7):c.4681G>T (p.Ala1561Ser) rs1064796334
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.4953+6C>A rs1892187663
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) rs1892168471
NM_000257.4(MYH7):c.5105C>A (p.Ala1702Glu) rs750013359
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys) rs1326035646
NM_000257.4(MYH7):c.5410G>A (p.Ala1804Thr) rs730880818
NM_000257.4(MYH7):c.571G>A (p.Val191Ile) rs2138682370
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) rs146796870
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) rs779190577
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_000257.4(MYH7):c.788_789del (p.Ile263fs) rs1892932325
NM_000257.4(MYH7):c.805G>A (p.Glu269Lys) rs2502310349
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.991G>A (p.Ala331Thr) rs397516276
NM_001267550.2(TTN):c.101774_101776dup (p.Glu33925dup) rs1553497680
NM_001267550.2(TTN):c.41486G>C (p.Gly13829Ala) rs1114167326
NM_001267550.2(TTN):c.521A>G (p.Tyr174Cys) rs1114167334
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.86637T>A (p.Asn28879Lys) rs1114167328
NM_001276345.2(TNNT2):c.674G>A (p.Arg225Lys) rs1114167329
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) rs1040079072
NM_004415.4(DSP):c.1430A>G (p.His477Arg) rs1114167325

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