ClinVar Miner

Variants in gene CDKN1C with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626 0.00044
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00023
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625 0.00022
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648 0.00004
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del) rs1554937999
NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3]) rs889984547
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) rs878853630
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767

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