ClinVar Miner

List of variants reported as likely pathogenic by Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego

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Total variants: 26
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HGVS dbSNP
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000432.3(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_001018005.2(TPM1):c.163G>T (p.Asp55Tyr) rs397516363
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.749A>T (p.Glu250Val) rs1596386673
NM_001099405.1(SCN5A):c.4246-657dup rs1450434935
NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs) rs1576685753
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001276345.2(TNNT2):c.163+1G>T rs113051005
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_002471.3(MYH6):c.1399G>T (p.Glu467Ter) rs778808038
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002834.5(PTPN11):c.854-1G>C rs1592847299
NM_003098.2(SNTA1):c.1169C>T (p.Ala390Val) rs121434500
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile) rs753988867
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588

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