ClinVar Miner

List of variants in gene CDKN2A, LOC130001603 studied for Familial melanoma

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_000077.5(CDKN2A):c.-14C>T rs764244718 0.00029
NM_000077.5(CDKN2A):c.11C>G (p.Ala4Gly) rs1277299943 0.00001
NM_000077.5(CDKN2A):c.12G>A (p.Ala4=) rs1434483085 0.00001
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys) rs759871071 0.00001
NM_000077.5(CDKN2A):c.4G>C (p.Glu2Gln) rs1060501273 0.00001
NM_000077.5(CDKN2A):c.7C>T (p.Pro3Ser) rs947790209 0.00001
NM_000077.5(CDKN2A):c.9G>A (p.Pro3=) rs1057523441 0.00001
NC_000009.12:g.(?_21970896)_(21974833_?)del
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.-21C>T rs762129503
NM_000077.5(CDKN2A):c.10G>A (p.Ala4Thr) rs2131114193
NM_000077.5(CDKN2A):c.11C>T (p.Ala4Val) rs1277299943
NM_000077.5(CDKN2A):c.13G>A (p.Ala5Thr) rs771582621
NM_000077.5(CDKN2A):c.1A>G (p.Met1Val) rs1587340603
NM_000077.5(CDKN2A):c.1A>T (p.Met1Leu) rs1587340603
NM_000077.5(CDKN2A):c.1_14del (p.Met1fs) rs1587340512
NM_000077.5(CDKN2A):c.2T>C (p.Met1Thr) rs759871071
NM_000077.5(CDKN2A):c.2T>G (p.Met1Arg) rs759871071
NM_000077.5(CDKN2A):c.6G>A (p.Glu2=) rs777092073
NM_000077.5(CDKN2A):c.6G>C (p.Glu2Asp)
NM_000077.5(CDKN2A):c.8C>T (p.Pro3Leu) rs1819968085
NM_000077.5(CDKN2A):c.8CGG[1] (p.Ala4_Ala5del) rs1064793970
NM_058195.4(CDKN2A):c.194-3653G>A rs1800586
NM_058195.4(CDKN2A):c.194-3653G>C rs1800586
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586

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