ClinVar Miner

List of variants studied for Cardiomyopathy by Blueprint Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr) rs730880254 0.00099
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) rs373979810 0.00010
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg) rs587782974 0.00004
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227 0.00002
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val) rs779999584 0.00001
NM_006393.3(NEBL):c.503A>T (p.Gln168Leu) rs730880171 0.00001
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg) rs730880232
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile) rs587782937
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577

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