ClinVar Miner

Variants in gene CDKN2A with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=) rs878853648 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_000077.5(CDKN2A):c.225C>G (p.Pro75=) rs762397298 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 0.00001
NM_000077.5(CDKN2A):c.388C>T (p.Leu130=) rs1060501261 0.00001
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg) rs587781733 0.00001
NM_058195.4(CDKN2A):c.-39G>A rs1064793537 0.00001
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=) rs754366579
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=) rs771138120
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys) rs145445140
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly) rs34886500
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys) rs1554654024
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=) rs575031539
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr) rs730881680
NM_000077.5(CDKN2A):c.84G>A (p.Val28=) rs1461154048

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