ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 23

Included ClinVar conditions (2):
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Total variants: 13
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NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg)
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val)
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493

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