ClinVar Miner

Variants with conflicting interpretations "pathogenic" from SIB Swiss Institute of Bioinformatics and "likely pathogenic" from any submitter

Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
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_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930

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