ClinVar Miner

List of variants studied for Skraban-Deardorff syndrome by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val) rs1572168244
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001379403.1(WDR26):c.365del (p.Gly122fs) rs2102930721
NM_001379403.1(WDR26):c.492dup (p.Ser165fs) rs2102930403
NM_001379403.1(WDR26):c.773_776del (p.Pro258fs) rs2102926443

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