ClinVar Miner

List of variants reported as likely pathogenic for Primary dilated cardiomyopathy by Blueprint Genetics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546 0.00003
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) rs397515939
NM_000257.4(MYH7):c.1888+1G>A rs113186231
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) rs869025483
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) rs794729320
NM_001267550.2(TTN):c.49813del (p.Val16605fs) rs730880245
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) rs869025552
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.67637-2A>G rs869025550
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.69639dup (p.Val23214fs) rs869025557
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) rs730880241
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) rs730880242
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.75314dup (p.Val25106fs) rs869025558
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) rs869025559
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87849del (p.Leu29283fs) rs869025554
NM_001267550.2(TTN):c.94249del (p.Val31417fs) rs869025555
NM_001267550.2(TTN):c.95966del (p.Asn31989fs) rs72648265
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_004281.4(BAG3):c.1297C>T (p.Gln433Ter) rs730880055
NM_004281.4(BAG3):c.909+1G>A rs869025365
NM_004415.2(DSP):c.2131_2132del rs587782927
NM_004415.4(DSP):c.1140+2T>G rs869025398
NM_004415.4(DSP):c.5725del (p.Ile1909fs) rs869025399
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495

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