ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, University of Goettingen and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Goettingen: Collection method of the submission from Institute of Human Genetics, University of Goettingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.142del (p.Val48fs) rs764326593 0.00001
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969

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