ClinVar Miner

List of variants reported as likely pathogenic for Familial melanoma

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NC_000009.11:g.(?_21990646)_(21994323_?)del
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) rs587778189
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.150+1del rs878853644
NM_000077.5(CDKN2A):c.150+2T>C rs1060501265
NM_000077.5(CDKN2A):c.157A>G (p.Met53Val) rs2131096682
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu) rs876658534
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.242C>T (p.Pro81Leu) rs11552823
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.5(CDKN2A):c.251A>T (p.Asp84Val)
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.5(CDKN2A):c.322G>T (p.Asp108Tyr) rs121913381
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs) rs1554653915
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser) rs1131691186
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp) rs1064794292
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_058195.4(CDKN2A):c.102G>A (p.Trp34Ter) rs1820531050
NM_058195.4(CDKN2A):c.133del (p.Leu45fs) rs2131148265
NM_058195.4(CDKN2A):c.172C>T (p.Gln58Ter) rs2131148082
NM_058195.4(CDKN2A):c.187del (p.Arg63fs) rs1820526139
NM_058195.4(CDKN2A):c.193+1del rs1820525500
NM_058195.4(CDKN2A):c.193+2T>C rs2131147945
NM_058195.4(CDKN2A):c.193G>C (p.Gly65Arg) rs2131147969
NM_058195.4(CDKN2A):c.55C>T (p.Arg19Ter) rs2131148812
NM_058195.4(CDKN2A):c.87_99del (p.Leu30fs) rs2131148531

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