List of variants in gene MCPH1 reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)	rs2515569	0.99154
NM_024596.5(MCPH1):c.228G>T (p.Val76=)	rs2305022	0.69651
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)	rs930557	0.67053
NM_024596.5(MCPH1):c.2215-19A>G	rs2936531	0.45478
NM_024596.5(MCPH1):c.23-26G>A	rs1550697	0.33312
NM_024596.5(MCPH1):c.1936-43T>G	rs41311412	0.06799
NM_024596.5(MCPH1):c.23-15A>G	rs146351889	0.01440
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=)	rs186547090	0.00403
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)	rs45540031	0.00217
NM_024596.5(MCPH1):c.1716C>T (p.Asn572=)	rs141218500	0.00134
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)	rs142858644	0.00120
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr)	rs75741316	0.00082
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=)	rs146744659	0.00035
NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)	rs556803400	0.00022
NM_024596.5(MCPH1):c.2295G>A (p.Ser765=)	rs200401940	0.00019
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=)	rs201026769	0.00004
NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser)	rs189380942	0.00003
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)	rs35999761
NM_024596.5(MCPH1):c.2452+49C>G	rs41306051
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp)	rs587783740
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)	rs2290145
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)	rs139607465
NM_024596.5(MCPH1):c.670+31G>A	rs2922827

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