List of variants in gene CPAP studied for Seckel syndrome 4

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CPAP):c.253C>A (p.Pro85Thr)	rs9511510	0.10060
NM_018451.5(CPAP):c.287A>G (p.His96Arg)	rs61739263	0.01206
NM_018451.5(CPAP):c.1233G>A (p.Pro411=)	rs112133852	0.00368
NM_018451.5(CPAP):c.68A>G (p.Asn23Ser)	rs116981543	0.00264
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp)	rs143258862	0.00170
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg)	rs143260721	0.00148
NM_018451.5(CPAP):c.656C>T (p.Pro219Leu)	rs139844197	0.00140
NM_018451.5(CPAP):c.2298T>A (p.Asp766Glu)	rs79951875	0.00096
NM_018451.5(CPAP):c.2571C>G (p.Ser857Arg)	rs78628025	0.00094
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met)	rs144938364	0.00056
NM_018451.5(CPAP):c.659C>T (p.Ser220Leu)	rs201219786	0.00008
NM_018451.5(CPAP):c.61A>G (p.Met21Val)	rs35498994
NM_018451.5(CPAP):c.61A>T (p.Met21Leu)	rs35498994

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