ClinVar Miner

List of variants reported as pathogenic for Wieacker-Wolff syndrome, female-restricted

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_64166588)_(64361318_?)del
NC_000023.11:g.64951692_65166933del
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.225+2T>C rs1929207873
NM_018684.4(ZC4H2):c.275_276del (p.Glu92fs) rs1929135614
NM_018684.4(ZC4H2):c.388del (p.Leu130fs)
NM_018684.4(ZC4H2):c.426G>A (p.Trp142Ter) rs1929070198
NM_018684.4(ZC4H2):c.575G>A (p.Cys192Tyr) rs2147345743
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_018684.4(ZC4H2):c.617G>T (p.Cys206Phe) rs1064795753
NM_018684.4(ZC4H2):c.67C>T (p.Gln23Ter) rs1929216641

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