List of variants reported as likely pathogenic for cardiomyopathy by All of Us Research Program, National Institutes of Health

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 90

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)	rs202141173	0.00009
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	rs375675796	0.00005
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)	rs397516347	0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)	rs368861241	0.00004
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)	rs886039030	0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)	rs727503278	0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	rs187830361	0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	rs2856655	0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)	rs727504238	0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)	rs397516142	0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met)	rs376897125	0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)	rs397516349	0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00002
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)	rs730881097	0.00002
NC_000011.10:g.47335872C>T	rs398123280	0.00001
NM_000256.3(MYBPC3):c.3331-2A>C	rs869025469	0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)	rs730880868	0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)	rs148808089	0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	rs397516103	0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)	rs121913651	0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)	rs267606911	0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	rs121913626	0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)	rs727504240	0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)	rs730880748	0.00001
NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg)	rs758891557	0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	rs397516179	0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)	rs397516187	0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)	rs727504325	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)	rs727504273	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)	rs397516265	0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His)	rs199474703	0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)	rs104893750	0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	rs397516354	0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	rs727504242	0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)	rs104894727	0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	rs766209297	0.00001
NM_001005242.3(PKP2):c.1171-2A>G	rs794729133	0.00001
NM_001005242.3(PKP2):c.1379-1998C>T	rs151212477	0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)	rs199476321	0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)	rs727504331	0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)	rs397516482	0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	rs727504247	0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	rs397517889	0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	rs267607578	0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)	rs794728591	0.00001
NM_000256.3(MYBPC3):c.1224-19G>A	rs587776699
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser)	rs727504279
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	rs397515905
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)	rs397515912
NM_000256.3(MYBPC3):c.2148+1G>T	rs1060499604
NM_000256.3(MYBPC3):c.2195_2197delinsCGGG (p.Asp732fs)
NM_000256.3(MYBPC3):c.2737+1G>A	rs727504314
NM_000256.3(MYBPC3):c.3004_3005del (p.Arg1002fs)
NM_000256.3(MYBPC3):c.3190+1G>T
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)	rs730880674
NM_000256.3(MYBPC3):c.3815-1G>A	rs397516044
NM_000256.3(MYBPC3):c.407-2A>G
NM_000256.3(MYBPC3):c.840_851+5del
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu)	rs397516101
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	rs397516127
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)	rs397516155
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro)	rs727504356
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)	rs730880750
NM_000257.4(MYH7):c.2620G>C (p.Glu874Gln)
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	rs121913629
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	rs397516178
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)	rs397516207
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)	rs45544633
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	rs121913650
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)	rs397516260
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)	rs104894370
NM_001005242.3(PKP2):c.1034+1G>C	rs869025496
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)	rs958681660
NM_001005242.3(PKP2):c.2167+1G>A	rs794729116
NM_001005242.3(PKP2):c.2392del (p.Val798fs)
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr)	rs1957129506
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met)	rs730881141
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)	rs397516457
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)	rs730881116
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)	rs752522753
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)	rs121908991
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)	rs61672878
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs)	rs1553261855
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	rs267607571
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)	rs878855234

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