ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Cavalleri Lab, Royal College of Surgeons in Ireland and "likely pathogenic" from any submitter

Minimum review status of the submission from Cavalleri Lab, Royal College of Surgeons in Ireland: Collection method of the submission from Cavalleri Lab, Royal College of Surgeons in Ireland:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter) rs199476100
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
Single allele

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