ClinVar Miner

List of variants in gene CDKN2A reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 25
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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.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.106del (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.132C>G (p.Tyr44Ter) rs1554656253
NM_000077.5(CDKN2A):c.132del (p.Ser43_Tyr44insTer) rs1131691187
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) rs104894095
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) rs730881675
NM_000077.5(CDKN2A):c.260G>C (p.Arg87Pro) rs878853647
NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter) rs121913384
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) rs121913389
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) rs768966657
NM_000077.5(CDKN2A):c.358del (p.Glu120fs) rs1060501263
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter) rs141798398
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.5(CDKN2A):c.45dup (p.Leu16fs) rs1131691188
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg) rs864622263
NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter) rs1554656411

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