ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val) rs202241113
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952

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