ClinVar Miner

List of variants in gene OCLN reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001205254.2(OCLN):c.452C>T (p.Ala151Val) rs28562785 0.00264
NM_001205254.2(OCLN):c.384C>T (p.Tyr128=) rs150730577 0.00010
NM_001205254.2(OCLN):c.1216G>A (p.Gly406Ser)
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001205254.2(OCLN):c.175A>C (p.Thr59Pro)
NM_001205254.2(OCLN):c.215T>G (p.Ile72Ser)
NM_001205254.2(OCLN):c.472A>G (p.Thr158Ala)
NM_001205254.2(OCLN):c.4T>C (p.Ser2Pro) rs113706384
NM_001205254.2(OCLN):c.811A>G (p.Met271Val)
NM_001205254.2(OCLN):c.944A>T (p.Tyr315Phe)

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