ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome by Invitae

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 20
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HGVS dbSNP
NC_000001.11:g.(?_242268256)_(243843190_?)del
NC_000001.11:g.(?_243415682)_(243415849_?)del
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567
NM_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.4(WDR19):c.3565+1G>A rs587777352
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635

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