List of variants in gene MCPH1 reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 17

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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.513G>T (p.Arg171Ser)	rs2442513	0.92258
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.2282C>T (p.Ala761Val)	rs1057090	0.44044
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)	rs2912010	0.39666
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)	rs2912016	0.37333
NM_024596.5(MCPH1):c.2215-15C>G	rs11137040	0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)	rs1057091	0.26146
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=)	rs2584	0.24125
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=)	rs2920676	0.14726
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn)	rs12674488	0.13225
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)	rs2083914	0.10697
NM_024596.5(MCPH1):c.863C>A (p.Pro288His)	rs35590577	0.07163
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)	rs2922828	0.01586
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=)	rs35551093	0.01384

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