List of variants reported as pathogenic for Microcephaly 3, primary, autosomal recessive by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)	rs747831095	0.00007
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter)	rs373278668	0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)	rs587783393	0.00004
NM_018249.6(CDK5RAP2):c.4005-1G>A	rs587783387	0.00002
NM_018249.6(CDK5RAP2):c.4005-15A>G	rs387906274	0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter)	rs374351172	0.00001
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter)	rs199422126
NM_018249.6(CDK5RAP2):c.4604+1G>C	rs869025200
NM_018249.6(CDK5RAP2):c.700G>T (p.Glu234Ter)	rs398122971

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