ClinVar Miner

List of variants in gene TMEM138 reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.4(TMEM138):c.-239C>T rs146156958
NM_016464.4(TMEM138):c.-255C>T rs112115349
NM_016464.5(TMEM138):c.*228C>G rs536120944
NM_016464.5(TMEM138):c.*264C>G rs886048409
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.*92G>C rs372997712
NM_016464.5(TMEM138):c.-157C>G rs779029696
NM_016464.5(TMEM138):c.-164T>C rs886048407
NM_016464.5(TMEM138):c.-169C>T rs553390222
NM_016464.5(TMEM138):c.-24G>A rs116455434
NM_016464.5(TMEM138):c.-71G>A rs199532763
NM_016464.5(TMEM138):c.128+15G>A rs886048408
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022

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