ClinVar Miner

List of variants studied for Meier-Gorlin syndrome 7 by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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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.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223

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