ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
m.9804G>A rs200613617

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