List of variants in gene HPDL reported as uncertain significance for Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)	rs199632752	0.00149
NM_032756.4(HPDL):c.1058A>T (p.Asn353Ile)	rs1272988091
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)	rs1373482623
NM_032756.4(HPDL):c.232G>T (p.Ala78Ser)	rs1360472871
NM_032756.4(HPDL):c.254T>G (p.Val85Gly)
NM_032756.4(HPDL):c.652C>G (p.Gln218Glu)	rs760311585
NM_032756.4(HPDL):c.832G>A (p.Gly278Ser)	rs2149082167

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