ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156

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