ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) rs200720341 0.00002
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly) rs765427429 0.00001
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro) rs1337100943
NM_000257.4(MYH7):c.2596T>C (p.Ser866Pro) rs1892629291
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001281740.3(FHOD3):c.1646+1G>A rs2036163874
NM_001458.5(FLNC):c.7087G>A (p.Asp2363Asn) rs1554401490
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
NM_006939.4(SOS2):c.3303T>G (p.Ser1101Arg) rs1317870927

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