List of variants in gene MCPH1 reported by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)	rs930557	0.67053
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)	rs1057090	0.44044
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)	rs1057091	0.26146
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg)	rs199422124	0.00003
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter)	rs121434305	0.00001
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)	rs199422125

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