List of variants reported as pathogenic for Joubert syndrome 31

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)	rs114280473	0.00417
NM_001375405.1(CEP120):c.1646C>T (p.Ala549Val)	rs775080726	0.00001
NM_001375405.1(CEP120):c.1138_1139insA (p.Ser380fs)	rs1554103267
NM_001375405.1(CEP120):c.2177T>C (p.Leu726Pro)	rs1554102026
NM_001375405.1(CEP120):c.581T>C (p.Val194Ala)	rs1554104276

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