ClinVar Miner

List of variants reported as likely 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: 12
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175 0.00001
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_003673.4(TCAP):c.1A>G (p.Met1Val) rs1567864804
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867

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