ClinVar Miner

Variants in gene CDKN1B with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser) rs141509450 0.00042
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly) rs546234840 0.00020
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004064.5(CDKN1B):c.281C>T (p.Pro94Leu) rs757917082 0.00011
NM_004064.5(CDKN1B):c.125C>T (p.Thr42Ile) rs200422211 0.00009
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=) rs151027466 0.00009
NM_004064.5(CDKN1B):c.-7G>A rs751341214

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