List of variants in gene MCPH1 reported as likely benign for microcephaly with intellectual disability

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.23-15A>G	rs146351889	0.01440
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=)	rs35551093	0.01384
NM_024596.5(MCPH1):c.2453-13G>A	rs111713406	0.00748
NM_024596.5(MCPH1):c.*199G>A	rs17317651	0.00596
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=)	rs186547090	0.00403
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)	rs146586991	0.00302
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)	rs77959215	0.00160
NM_024596.5(MCPH1):c.523G>A (p.Ala175Thr)	rs370831760	0.00001
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)	rs202004426
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC	rs2129580718

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