ClinVar Miner

List of variants studied for Skraban-Deardorff syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln) rs774272467
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro) rs2102905325
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly) rs1553354956
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn) rs1553354952

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