ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario and "likely pathogenic" from any submitter

Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657

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