ClinVar Miner

List of variants in gene TMEM231 reported as pathogenic for Joubert syndrome 20

Included ClinVar conditions (2):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter) rs543122080 0.00001
NM_001077418.3(TMEM231):c.582+1G>A rs752141701 0.00001
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)del
NC_000016.9:g.(?_75573892)_(75579413_?)del
NC_000016.9:g.(?_75589682)_(75590169_?)del
NM_001077418.3(TMEM231):c.-37G>A
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+39_139+40del
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr) rs903354438
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter) rs2151702587
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC

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