ClinVar Miner

List of variants studied for cardiomyopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472 0.00010
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) rs1554721883
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262

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