ClinVar Miner

List of variants reported as likely pathogenic by Faculté Pluridciplinaire Nador,Université Mohamed Premier

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Total variants: 8
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HGVS dbSNP
NM_000077.4(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.4(CDKN2A):c.292C>T (p.His98Tyr) rs1064793953
NM_000077.5(CDKN2A):c.47_50del (p.Leu16fs) rs587782206
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421
NM_006218.4(PIK3CA):c.452T>C (p.Val151Ala)

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