List of variants reported as likely pathogenic for Skraban-Deardorff syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001083961.2(WDR62):c.2515C>T (p.Arg839Trp)	rs377731205	0.00002
NM_001083961.2(WDR62):c.882+1G>T
NM_001379403.1(WDR26):c.1006C>G (p.Leu336Val)	rs2102919542
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys)	rs2102912929
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro)	rs2102905325
NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly)	rs1553354956
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn)	rs1553354952
NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr)	rs2102897778
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val)	rs1572168244
NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln)	rs1673333616
NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)
NM_001379403.1(WDR26):c.823-10A>G	rs1674395504

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