ClinVar Miner

List of variants in gene TDRD7 reported as pathogenic for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_014290.3(TDRD7):c.1129del (p.Ala377fs) rs765628635
NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del) rs750207077
NM_014290.3(TDRD7):c.2008C>T (p.Gln670Ter) rs2131165749
NM_014290.3(TDRD7):c.2660del (p.Lys887fs)
NM_014290.3(TDRD7):c.328dup (p.Thr110fs) rs1554743428
NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter) rs1554744860

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