List of variants reported as pathogenic for Meier-Gorlin syndrome 4

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)	rs200652608	0.00006
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)	rs387906917	0.00005
NM_030928.4(CDT1):c.196G>A (p.Ala66Thr)	rs387906918	0.00001
NM_030928.4(CDT1):c.1078_1080del (p.Ala360del)	rs1567502140
NM_030928.4(CDT1):c.1276-24A>G	rs2142945856
NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter)	rs147914553
NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)
NM_030928.4(CDT1):c.351G>C (p.Gln117His)	rs779871947
NM_030928.4(CDT1):c.832+1G>A	rs587780305

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