List of variants in gene DCAF17 reported as pathogenic for Woodhouse-Sakati syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_025000.4(DCAF17):c.1091+2T>C	rs1235902967	0.00001
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter)	rs1559264135	0.00001
NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter)	rs761229686	0.00001
NM_025000.4(DCAF17):c.1038T>G (p.Tyr346Ter)
NM_025000.4(DCAF17):c.1052_1058del (p.Ala351fs)
NM_025000.4(DCAF17):c.1068dup (p.His357fs)
NM_025000.4(DCAF17):c.1091+6T>G	rs1559289651
NM_025000.4(DCAF17):c.1097T>A (p.Leu366Ter)
NM_025000.4(DCAF17):c.1127del (p.Ser376fs)
NM_025000.4(DCAF17):c.1204dup (p.Thr402fs)	rs1696575671
NM_025000.4(DCAF17):c.127-3_127-1delinsAA	rs1574303761
NM_025000.4(DCAF17):c.1271del (p.Phe424fs)
NM_025000.4(DCAF17):c.1422+5G>T	rs1314048356
NM_025000.4(DCAF17):c.270del (p.Lys90fs)	rs879253799
NM_025000.4(DCAF17):c.289dup (p.Ile97fs)	rs863224865
NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter)
NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter)	rs760978794
NM_025000.4(DCAF17):c.413del (p.Gly138fs)
NM_025000.4(DCAF17):c.436del (p.Ala147fs)	rs797045038
NM_025000.4(DCAF17):c.535C>T (p.Gln179Ter)
NM_025000.4(DCAF17):c.539dup (p.Gly181fs)
NM_025000.4(DCAF17):c.554_555del (p.His185fs)
NM_025000.4(DCAF17):c.578dup (p.Arg194fs)
NM_025000.4(DCAF17):c.673_674del (p.Ile225fs)
NM_025000.4(DCAF17):c.705_706del (p.Leu235_Tyr236insTer)
NM_025000.4(DCAF17):c.894_906del (p.Gly299fs)

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