ClinVar Miner

List of variants in gene CDKN2A reported as pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) rs104894095 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000077.5(CDKN2A):c.131dup (p.Tyr44Ter) rs730881673
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_058195.4(CDKN2A):c.193+1G>A rs1060501262

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