ClinVar Miner

List of variants reported as pathogenic for Neurodevelopmental disorder with spasticity and poor growth

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del)	rs1248346344
NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)	rs1553232770
NM_016406.4(UFC1):c.68G>A (p.Arg23Gln)	rs1181612302

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