ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 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_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2857del (p.Leu953fs) rs2073308127
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs) rs2143321666
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) rs61661343

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