ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas and "uncertain significance" from any submitter

Minimum review status of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas: Collection method of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224

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