ClinVar Miner

List of variants reported as pathogenic for cardiomyopathy by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
m.8344A>G rs118192098

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