ClinVar Miner

List of variants in gene UFC1 studied for Neurodevelopmental disorder with spasticity and poor growth

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_016406.4(UFC1):c.135CAA[1] (p.Asn46del)	rs1248346344
NM_016406.4(UFC1):c.153C>A (p.Asn51Lys)	rs142789001
NM_016406.4(UFC1):c.192-6T>C
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)	rs1553232770

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