ClinVar Miner

List of variants in gene CDKN2A reported by Genomic Diagnostics Laboratory, National Institute of Medical Genomics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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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.151-6_151delinsC
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)
NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro) rs1554654113

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