ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 3

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Total variants: 9
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NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
NM_001134831.2(AHI1):c.2739_2741TCT[1] (p.Leu915del)
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175

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