ClinVar Miner

List of variants in gene ARMCX5-GPRASP2, GPRASP2 studied for X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001004051.4(GPRASP2):c.1295G>A (p.Gly432Glu) rs1190810703
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn) rs1569491884
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)

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