List of variants reported as pathogenic for cardiomyopathy by Mendelics

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 88

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	rs371493232	0.00005
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)	rs769097909	0.00003
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	rs28937909	0.00002
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	rs1800171	0.00001
NM_000256.3(MYBPC3):c.1227-13G>A	rs397515893	0.00001
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)	rs199979286	0.00001
NC_012920.1(MT-ATP6):m.8783G>A	rs1603221804
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-CYB):m.16002T>C	rs1603225633
NC_012920.1(MT-CYB):m.4296G>A	rs1603219393
NC_012920.1(MT-ND5):m.12425del	rs1603223730
NC_012920.1(MT-ND5):m.13063G>A	rs1603224017
NC_012920.1:m.11778G>A	rs199476112
NC_012920.1:m.13051G>A	rs1131692063
NC_012920.1:m.13094T>C	rs1603224029
NC_012920.1:m.14484T>C	rs199476104
NC_012920.1:m.3460G>A	rs199476118
NC_012920.1:m.8969G>A	rs794726857
NC_012920.1:m.8993T>C	rs199476133
NC_012920.1:m.8993T>G	rs199476133
NC_012920.1:m.9176T>C	rs199476135
NC_012920.1:m.9185T>C	rs199476138
NC_012920.1:m.9205_9206del	rs199476137
NC_012920.1:m.9237G>A	rs1057516064
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)	rs2142985073
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	rs794727112
NM_000018.4(ACADVL):c.1752-1G>A	rs2142990593
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)	rs782011714
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)	rs2039149745
NM_000152.5(GAA):c.2740dup (p.Gln914fs)	rs745427943
NM_000232.5(SGCB):c.243+2T>C	rs1553940661
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)	rs1578126090
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)	rs1578125670
NM_000256.3(MYBPC3):c.3628-41_3628-17del	rs36212066
NM_000258.3(MYL3):c.157+1G>A	rs2106910461
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala)	rs2147285302
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)	rs11541795
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	rs1598844112
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)	rs121918090
NM_000371.4(TTR):c.220G>A (p.Glu74Lys)	rs1555631393
NM_000371.4(TTR):c.265T>C (p.Tyr89His)	rs121918100
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	rs121918089
NM_000432.4(MYL2):c.3+2T>C	rs111373423
NM_001267550.2(TTN):c.106531+1G>A	rs760915007
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)	rs1578126437
NM_001267550.2(TTN):c.669+1G>A	rs1574982376
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	rs869320741
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)	rs121908334
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)	rs1575014889
NM_001927.4(DES):c.639+4_639+5del	rs730880289
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	rs397516706
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	rs397516827
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	rs794729219
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)	rs2150312299
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)	rs1469053638
NM_004453.4(ETFDH):c.684+2T>G	rs1580406119
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro)	rs2120821285
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)	rs1595763925
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)	rs750777752
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)	rs918645468
m.10663T>C	rs1556423844
m.12706T>C	rs267606893
m.14459G>A	rs199476105
m.14487T>C	rs199476109
m.14568C>T	rs397515506
m.15150G>A	rs207460000
m.15579A>G	rs207460002
m.3635G>A	rs397515507
m.3697G>A	rs199476122
m.3733G>A	rs199476125
m.3946G>A	rs199476123
m.4160T>C	rs199476119
m.4171C>A	rs28616230
m.4284G>A	rs121434468
m.4300A>G	rs121434470

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