ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "pathogenic" from any submitter

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001165963.4(SCN1A):c.602+1G>A
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568

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