ClinVar Miner

List of variants in gene TMEM138 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter) rs146264153 0.00001
NC_000011.9:g.(?_61133497)_(61133708_?)del
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs) rs771224190
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.377-3C>G rs774110963
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer) rs2135153244

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