ClinVar Miner

List of variants studied for Joubert syndrome 9 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437

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