ClinVar Miner

List of variants reported as pathogenic for Bosley-Salih-Alorainy syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005522.5(HOXA1):c.185del (p.Gly62fs) rs1562700083
NM_005522.5(HOXA1):c.84C>G (p.Tyr28Ter) rs104894017

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