List of variants in gene combination CPAP, RNF17 reported as uncertain significance for Microcephaly 6, primary, autosomal recessive

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile)	rs144251950	0.00076
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile)	rs140564566	0.00071
NM_018451.5(CPAP):c.3305A>G (p.Asn1102Ser)	rs41300592	0.00025
NM_018451.5(CPAP):c.3960C>T (p.Ser1320=)	rs113239817	0.00023
NM_018451.5(CPAP):c.3825-11A>T	rs527946206	0.00012
NM_018451.5(CPAP):c.4016G>A (p.Ter1339=)	rs768167259	0.00003
NM_018451.5(CPAP):c.3618+7T>C	rs769845659	0.00002
NM_018451.5(CPAP):c.3654G>A (p.Thr1218=)	rs765299653	0.00001
NM_018451.5(CPAP):c.3628T>C (p.Tyr1210His)
NM_018451.5(CPAP):c.3653C>T (p.Thr1218Met)	rs149855336
NM_018451.5(CPAP):c.3769C>A (p.Pro1257Thr)	rs201774037

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