ClinVar Miner

List of variants reported as pathogenic for Woodhouse-Sakati syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_025000.4(DCAF17):c.1091+6T>G rs1559289651
NM_025000.4(DCAF17):c.127-3_127-1delinsAA
NM_025000.4(DCAF17):c.1422+5G>T rs1314048356
NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter) rs760978794
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) rs1559264135
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025000.4(DCAF17):c.50del (p.Ala17fs) rs1559245286
NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter) rs761229686

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