ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp) rs752007810 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) rs730880956 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787

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