ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.5283+1G>A rs775803553 0.00002
NM_006939.4(SOS2):c.947C>G (p.Pro316Arg) rs1885702697 0.00001
NM_000256.3(MYBPC3):c.1669G>T (p.Gly557Cys) rs730880693
NM_000335.5(SCN5A):c.4061T>C (p.Leu1354Pro) rs2061232697
NM_001103.4(ACTN2):c.1412T>C (p.Leu471Pro)
NM_001281740.3(FHOD3):c.172G>C (p.Asp58His)
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_003239.5(TGFB3):c.785G>T (p.Gly262Val) rs1595339233
NM_004006.3(DMD):c.3786+5G>C
NM_005633.4(SOS1):c.3068C>G (p.Pro1023Arg) rs1572806229

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