ClinVar Miner

Variants in gene OTOGL with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter) rs368844341 0.00016
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs) rs766971906 0.00001
NM_001378609.3(OTOGL):c.5743C>T (p.Arg1915Ter) rs1064796988 0.00001
NM_001378609.3(OTOGL):c.3760dup (p.Tyr1254fs) rs1064795124
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter)
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6494C>A (p.Ser2165Ter)
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658

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