ClinVar Miner

List of variants reported as likely pathogenic for Senior-Loken syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.307-1G>A
NM_006642.5(SDCCAG8):c.546+1G>A
NM_014956.5(CEP164):c.2493+1G>A
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_015102.5(NPHP4):c.1788_1791del (p.Ser597fs) rs747699128
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025132.4(WDR19):c.1982+2T>C

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