ClinVar Miner

List of variants reported as likely benign for cardiomyopathy by Counsyl

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000018.4(ACADVL):c.1752-36G>A rs200709964 0.00173
NM_000018.4(ACADVL):c.752+24C>T rs201030339 0.00170
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000018.4(ACADVL):c.343-41C>A rs368107662 0.00031
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000018.4(ACADVL):c.1678+39C>G rs377062362 0.00016
NM_000018.4(ACADVL):c.1605+22A>G rs1052646012 0.00014
NM_000018.4(ACADVL):c.342+25C>T rs771711857 0.00013
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_000018.4(ACADVL):c.1751+46C>G rs375203448 0.00010
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer) rs778770773 0.00010
NM_000018.4(ACADVL):c.277+24T>C rs199945418 0.00009
NM_000152.5(GAA):c.1754+21C>T rs373387713 0.00009
NM_000018.4(ACADVL):c.63-31C>T rs372982295 0.00007
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000018.4(ACADVL):c.1679-34C>T rs779439503 0.00004
NM_000018.4(ACADVL):c.278-39C>T rs202244937 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000232.5(SGCB):c.429+24G>T rs367761233 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000018.4(ACADVL):c.1332+27C>T rs200161683 0.00003
NM_000018.4(ACADVL):c.1434+23G>A rs759991740 0.00003
NM_000018.4(ACADVL):c.1532+11G>A rs372900326 0.00003
NM_000018.4(ACADVL):c.1678+24G>A rs751665756 0.00003
NM_000018.4(ACADVL):c.1751+30C>T rs757837505 0.00003
NM_000018.4(ACADVL):c.1752-23T>C rs368009800 0.00003
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys) rs387907483 0.00003
NM_000018.4(ACADVL):c.1678+22C>T rs761650394 0.00002
NM_000018.4(ACADVL):c.1752-32_1752-31del rs758750087 0.00002
NM_000018.4(ACADVL):c.342+14C>T rs567468883 0.00002
NM_000231.3(SGCG):c.196-6195C>T rs207473592 0.00002
NM_000018.4(ACADVL):c.1434+38G>C rs763704056 0.00001
NM_000018.4(ACADVL):c.1752-33C>T rs760851448 0.00001
NM_000018.4(ACADVL):c.204+15G>A rs1404625751 0.00001
NM_000018.4(ACADVL):c.342+16G>C rs536497611 0.00001
NM_000018.4(ACADVL):c.343-23G>A rs781064781 0.00001
NM_000018.4(ACADVL):c.63-18A>G rs1481782237 0.00001
NM_000023.4(SGCA):c.956+21C>T rs367690233 0.00001
NM_000152.5(GAA):c.2040+16C>T rs573522544 0.00001
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met) rs387907484 0.00001
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter) rs941971930 0.00001
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter) rs1162410484 0.00001
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs) rs758100654 0.00001
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup) rs778682733 0.00001
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr) rs760075470 0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser) rs387907486 0.00001
NM_000018.4(ACADVL):c.1270-38A>G rs1555528742
NM_000018.4(ACADVL):c.1333-25T>C rs770876053
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1434+24G>A rs1555528806
NM_000018.4(ACADVL):c.1434+27G>A rs1271483942
NM_000018.4(ACADVL):c.1532+7T>C rs534469222
NM_000018.4(ACADVL):c.1606-28G>A rs773931227
NM_000018.4(ACADVL):c.1606-36G>A rs890862631
NM_000018.4(ACADVL):c.1606-42C>G rs372357967
NM_000018.4(ACADVL):c.1606-42C>T rs372357967
NM_000018.4(ACADVL):c.1678+27C>A rs759729168
NM_000018.4(ACADVL):c.204+31dup rs1555527700
NM_000018.4(ACADVL):c.277+27del rs775298132
NM_000018.4(ACADVL):c.62+10del rs1251002707
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.383-35_383-34insA rs1554119750
NM_000337.6(SGCD):c.383-47CTCTCTC[4] rs780744816
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs) rs768949918
NM_022042.4(SLC26A1):c.139del (p.Arg47fs) rs1553915793
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs) rs1553915253
NM_022042.4(SLC26A1):c.154del (p.Asp52fs) rs1553915784
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs) rs1553915228
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs) rs1265696919
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs) rs1265696919
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr) rs387907481
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del) rs1553915189
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs) rs1372086275
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs) rs1553915192
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter) rs200798328
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer) rs1553915173
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs) rs1553915155
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs) rs1553915149
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter) rs752252231
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter) rs1553915726
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs) rs1553915711
NM_022042.4(SLC26A1):c.347del (p.Gly116fs) rs756881822

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