ClinVar Miner

List of variants in gene CTNND2 reported as likely pathogenic for not provided

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Total variants: 12
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 5p15.2(chr5:11134771-11170014)x1
GRCh37/hg19 5p15.2(chr5:11142662-11208440)x1
GRCh37/hg19 5p15.2(chr5:11190118-11200548)x1
GRCh37/hg19 5p15.2(chr5:11383308-11414552)x1
NM_001332.4(CTNND2):c.1087A>T (p.Lys363Ter) rs1554046915
NM_001332.4(CTNND2):c.1645_1646insGG (p.Asp549fs) rs1580669869
NM_001332.4(CTNND2):c.2002_2006del (p.Asp668fs)
NM_001332.4(CTNND2):c.2653C>T (p.Arg885Ter) rs886041494
NM_001332.4(CTNND2):c.3092G>A (p.Trp1031Ter) rs1561136548
NM_001332.4(CTNND2):c.470A>G (p.Gln157Arg) rs1057518120
NM_001332.4(CTNND2):c.748del (p.Ala250fs) rs1581078962
NM_001332.4(CTNND2):c.896C>A (p.Ser299Ter) rs1064796494

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