ClinVar Miner

List of variants studied for Skraban-Deardorff syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001379403.1(WDR26):c.1062T>G (p.Ser354Arg) rs150512167
NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn) rs1553359384
NM_001379403.1(WDR26):c.1204_1205del (p.Gln402fs) rs1553359034
NM_001379403.1(WDR26):c.1461_1462del (p.His489fs) rs1553354980
NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) rs1553354926
NM_001379403.1(WDR26):c.1757del (p.Val586fs) rs1553353378

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