ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, University of Wuerzburg and "likely benign" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University of Wuerzburg: Collection method of the submission from Institute of Human Genetics, University of Wuerzburg:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=) rs149395405 0.00042
NM_015295.3(SMCHD1):c.3802-12T>C rs199707863 0.00005
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_000478.6(ALPL):c.793-10T>C rs1114167436

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