ClinVar Miner

List of variants studied for Mowat-Wilson syndrome by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
NM_014795.4(ZEB2):c.-69-1G>A rs587776612
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) rs587776603
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) rs137852980
NM_014795.4(ZEB2):c.1862del (p.Val621fs) rs587776611
NM_014795.4(ZEB2):c.1892del (p.Asn631fs) rs587776607
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) rs587776606
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) rs137852982
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) rs397515449
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) rs137852983
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) rs587776609
NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) rs587776608
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) rs587776605

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