List of variants reported as pathogenic for Meier-Gorlin syndrome 7

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)	rs540217942	0.00010
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp)	rs778665661	0.00006
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)	rs754080445	0.00002
NM_003504.5(CDC45):c.318C>T (p.Val106=)	rs745800041	0.00001
NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del
NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs)	rs1933800287
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg)	rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His)	rs879255632
NM_003504.5(CDC45):c.326_329dup (p.Asn111fs)	rs752023208
NM_003504.5(CDC45):c.333C>T (p.Asn111=)	rs748749078
NM_003504.5(CDC45):c.893C>T (p.Ala298Val)	rs146559223

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