ClinVar Miner

List of variants reported as likely pathogenic by Klaassen Lab, Charite University Medicine Berlin

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) rs1477669354 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NM_000116.5(TAFAZZIN):c.355G>A (p.Val119Met) rs1603377936
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000257.4(MYH7):c.1048T>A (p.Tyr350Asn) rs730880863
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000257.4(MYH7):c.644C>T (p.Thr215Ile) rs1892948780
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) rs397515482
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter) rs1599907512
NM_001005242.3(PKP2):c.1068_1069dup (p.Val357fs) rs2137919964
NM_001005242.3(PKP2):c.1584del (p.Arg529fs) rs1592738654
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del) rs1270283587
NM_001018005.2(TPM1):c.257C>T (p.Ala86Val) rs757577112
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) rs1575799625
NM_001267550.2(TTN):c.85891del (p.Ala28631fs) rs1575610911
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_002880.4(RAF1):c.806C>T (p.Thr269Ile) rs2058951328
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004415.4(DSP):c.2200del (p.Arg734fs) rs2113683177
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_005477.3(HCN4):c.1445G>A (p.Gly482Glu) rs2151217037
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912

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