List of variants in gene ANKLE2 reported as uncertain significance for autosomal recessive disease

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)	rs865818494	0.00053
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys)	rs761627940	0.00001
NM_015114.3(ANKLE2):c.2467C>T (p.Arg823Trp)	rs753976276	0.00001
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met)	rs117750374
NM_015114.3(ANKLE2):c.1202A>G (p.Asp401Gly)	rs2136158180
NM_015114.3(ANKLE2):c.1687G>A (p.Glu563Lys)	rs1334824087
NM_015114.3(ANKLE2):c.1892-127_1892-65del	rs1555235999
NM_015114.3(ANKLE2):c.473G>T (p.Gly158Val)

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