ClinVar Miner

List of variants in gene CFAP43 studied for normal pressure hydrocephalus

Included ClinVar conditions (2):

Normal pressure hydrocephalus
Normal pressure hydrocephalus; Failure to thrive; Optic atrophy; Hypoventilation; Blindness; Bilateral ptosis; Hypertrophic cardiomyopathy; Global brain atrophy; Chronic lactic acidosis; Restrictive external ophthalmoplegia; Infantile muscular hypotonia; Severe global developmental delay; Diffuse cerebellar atrophy

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_025145.7(CFAP43):c.2658G>A (p.Trp886Ter)	rs139080358	0.00017
NM_025145.7(CFAP43):c.131G>C (p.Cys44Ser)
NM_025145.7(CFAP43):c.3937C>T (p.Arg1313Ter)
NM_025145.7(CFAP43):c.4506G>A (p.Trp1502Ter)	rs1327299547

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