ClinVar Miner

List of variants reported for Woodhouse-Sakati syndrome by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491 0.04289
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_025000.4(DCAF17):c.*188T>A rs142315519 0.02083
NM_025000.4(DCAF17):c.127-15C>A rs146556466 0.00184
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=) rs3731980 0.00143
NM_025000.4(DCAF17):c.537+16C>T rs142462938 0.00052
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025000.4(DCAF17):c.732+70del rs58636477

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