ClinVar Miner

List of variants in gene CPAP, RNF17 studied for Seckel syndrome 4

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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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.3960C>T (p.Ser1320=)	rs113239817	0.00023
NM_018451.5(CPAP):c.4016G>A (p.Ter1339=)	rs768167259	0.00003

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