ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_004409.5(DMPK):c.1324G>A (p.Val442Met) rs780659624 0.00004
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266 0.00004
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr) rs368104687 0.00001
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp) rs180824037 0.00001
NM_004006.3(DMD):c.703C>A (p.Leu235Ile) rs200177107 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1]) rs772557308

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