ClinVar Miner

Variants in gene MCPH1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.5(MCPH1):c.2453-14C>T rs17077744
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787

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