List of variants reported as pathogenic for Microcephaly and chorioretinopathy 3

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)	rs794726855	0.00004
NM_014444.5(TUBGCP4):c.1380G>A (p.Trp460Ter)	rs1595496969	0.00001
NG_042168.2:g.(35752_37583)_(39659_?)del
NM_014444.5(TUBGCP4):c.1669C>T (p.Arg557Ter)	rs755822321
NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs)	rs794726856
NM_014444.5(TUBGCP4):c.889+2T>C	rs772200785

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