ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg: Collection method of the submission from Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg:
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_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734

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