ClinVar Miner

List of variants in gene SPOP studied for Neurodevelopmental disorder with microcephaly and dysmorphic facies; Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_001007228.2(SPOP):c.440A>G (p.Asn147Ser)

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