ClinVar Miner

List of variants studied for Joubert syndrome 20

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
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.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001077418.3(TMEM231):c.664+1G>A

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