ClinVar Miner

List of variants studied for cardiomyopathy by Klaassen Lab, Charite University Medicine Berlin

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser) rs199998420 0.00081
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) rs140148322 0.00036
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) rs141261442 0.00022
NM_000335.5(SCN5A):c.998+5G>A rs187531872 0.00019
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys) rs1208347768 0.00003
NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser) rs201431768 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_007078.3(LDB3):c.1963C>A (p.Pro655Thr) rs745444678 0.00003
NM_007078.3(LDB3):c.66C>A (p.Asp22Glu) rs1261515174 0.00003
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met) rs141276802 0.00003
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala) rs867374780 0.00002
NM_000363.5(TNNI3):c.24+2T>A rs777702465 0.00001
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys) rs397516344 0.00001
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) rs753758467 0.00001
NM_001267550.2(TTN):c.25064-4A>G rs747247583 0.00001
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val) rs762577093 0.00001
NM_004281.4(BAG3):c.881G>A (p.Arg294His) rs151335530 0.00001
NM_016599.5(MYOZ2):c.659T>C (p.Met220Thr) rs1578374324 0.00001
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) rs397514743 0.00001
NM_144573.4(NEXN):c.1619T>C (p.Met540Thr) rs531641059 0.00001
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) rs1595843553
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.4501G>T (p.Glu1501Ter) rs1595074652
NM_000257.4(MYH7):c.5767A>G (p.Lys1923Glu) rs1595070373
NM_000257.4(MYH7):c.644C>T (p.Thr215Ile) rs1892948780
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter) rs1599907512
NM_001005242.3(PKP2):c.1584del (p.Arg529fs) rs1592738654
NM_001018005.2(TPM1):c.340G>C (p.Glu114Gln) rs1596361271
NM_001077653.2(TBX20):c.208G>A (p.Gly70Ser) rs1584359977
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe) rs1590673852
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.39709+1G>T rs1576940155
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.85891del (p.Ala28631fs) rs1575610911
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile) rs1571590208
NM_001318895.3(FHL2):c.143G>A (p.Gly48Asp) rs1196386664
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile) rs1578264552
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004415.4(DSP):c.2200del (p.Arg734fs) rs2113683177
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup) rs1175436231
NM_007078.3(LDB3):c.1792T>C (p.Cys598Arg) rs1589676793
NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp) rs1569732779
NM_032578.4(MYPN):c.970C>T (p.His324Tyr) rs1589550119
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.986G>C (p.Arg329Pro) rs397517913
arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.