ClinVar Miner

List of variants studied for Woodhouse-Sakati syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864
NM_025000.4(DCAF17):c.1083T>C (p.Asn361=) rs193214847
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=) rs3731980
NM_025000.4(DCAF17):c.1519T>C (p.Cys507Arg) rs147685213
NM_025000.4(DCAF17):c.532C>T (p.Arg178Trp) rs377364475
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu) rs150095386
NM_025000.4(DCAF17):c.581G>A (p.Arg194Gln) rs371230892
NM_025000.4(DCAF17):c.605G>A (p.Gly202Glu)
NM_025000.4(DCAF17):c.735C>G (p.Phe245Leu) rs773360559
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600
NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter) rs868533593
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.982-2A>C rs780493577

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