ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) rs201026769
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=) rs141218500
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090
NM_024596.5(MCPH1):c.2215-19A>G rs2936531
NM_024596.5(MCPH1):c.2250G>T (p.Pro750=) rs370202384
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022
NM_024596.5(MCPH1):c.23-15A>G rs146351889
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024596.5(MCPH1):c.477A>T (p.Ser159=) rs41313948
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000

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