ClinVar Miner

List of variants in gene TMEM231 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (64):
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Gene type:
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Total variants: 18
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HGVS dbSNP
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly) rs1176007249
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys) rs1597051521
NM_001077418.3(TMEM231):c.140-30A>C
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln) rs774528098
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
NM_001077418.3(TMEM231):c.438+5G>C
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp) rs1597041448
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu) rs746025189
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala) rs1295551040
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
Single allele

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