ClinVar Miner

List of variants studied for Dilated Cardiomyopathy, Recessive by Illumina Clinical Services Laboratory,Illumina

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Total variants: 34
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HGVS dbSNP
NM_000363.4(TNNI3):c.-148A>G rs73935313
NM_000363.5(TNNI3):c.-103C>T rs557391836
NM_000363.5(TNNI3):c.-133G>T rs886054636
NM_000363.5(TNNI3):c.-35C>A rs3729707
NM_000363.5(TNNI3):c.-85A>C rs186540595
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.150+13G>A rs73617692
NM_000363.5(TNNI3):c.157C>T (p.Leu53=) rs763981651
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.25-8T>A rs3729836
NM_001079802.2(FKTN):c.*324G>C rs536822992
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) rs890872
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) rs114601492
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) rs559008223
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725
NM_003283.6(TNNT1):c.-20A>G rs9636153
NM_003283.6(TNNT1):c.33-8G>A rs76630067
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759

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