ClinVar Miner

List of variants in gene CDKN2A reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.150+1104C>A rs756102261 0.00069
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_058195.4(CDKN2A):c.152G>C (p.Arg51Thr) rs1014358179 0.00003
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg) rs528789830 0.00002
NM_058195.4(CDKN2A):c.97G>A (p.Glu33Lys) rs1287464120 0.00002
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr) rs777948908 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu) rs779913365 0.00001
NM_058195.4(CDKN2A):c.70G>A (p.Val24Met) rs1406669428 0.00001
NM_000077.5(CDKN2A):c.149A>T (p.Gln50Leu) rs587778189
NM_000077.5(CDKN2A):c.151-7C>T rs1482685317
NM_000077.5(CDKN2A):c.156G>A (p.Met52Ile) rs1377159790
NM_000077.5(CDKN2A):c.170C>G (p.Ala57Gly) rs372266620
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.172C>G (p.Arg58Gly) rs121913387
NM_000077.5(CDKN2A):c.262G>C (p.Glu88Gln) rs121913384
NM_000077.5(CDKN2A):c.272T>A (p.Leu91Gln) rs1563889362
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.38C>T (p.Ala13Val) rs745612549
NM_000077.5(CDKN2A):c.431G>A (p.Arg144His) rs1060501274
NM_000077.5(CDKN2A):c.457+3G>A rs1206827598
NM_000077.5(CDKN2A):c.45G>T (p.Trp15Cys) rs138677674
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln) rs104894097
NM_000077.5(CDKN2A):c.81G>A (p.Glu27=) rs1060504184
NM_058195.4(CDKN2A):c.23C>A (p.Thr8Asn) rs1820536698
NM_058195.4(CDKN2A):c.92C>T (p.Thr31Met) rs528789830

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