ClinVar Miner

List of variants in gene CTNND2 studied for Inborn genetic diseases

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001332.4(CTNND2):c.751G>A (p.Ala251Thr) rs750989092 0.00314
NM_001332.4(CTNND2):c.803C>A (p.Pro268Gln) rs765655737 0.00062
NM_001332.4(CTNND2):c.662C>T (p.Pro221Leu) rs1016219246 0.00014
NM_001332.4(CTNND2):c.2404G>A (p.Asp802Asn) rs1228655718 0.00001
NM_001332.4(CTNND2):c.1009G>A (p.Val337Met)
NM_001332.4(CTNND2):c.121del (p.Asp41fs)
NM_001332.4(CTNND2):c.1295C>T (p.Pro432Leu)
NM_001332.4(CTNND2):c.1319G>T (p.Ser440Ile)
NM_001332.4(CTNND2):c.1399G>A (p.Val467Ile)
NM_001332.4(CTNND2):c.1498G>C (p.Ala500Pro)
NM_001332.4(CTNND2):c.1517T>A (p.Leu506Gln)
NM_001332.4(CTNND2):c.1629-2A>G rs1554008611
NM_001332.4(CTNND2):c.1937G>A (p.Arg646His)
NM_001332.4(CTNND2):c.2126C>T (p.Ser709Leu)
NM_001332.4(CTNND2):c.2241C>G (p.Ile747Met)
NM_001332.4(CTNND2):c.22G>A (p.Gly8Ser)
NM_001332.4(CTNND2):c.2429G>T (p.Gly810Val)
NM_001332.4(CTNND2):c.2605G>A (p.Ala869Thr)
NM_001332.4(CTNND2):c.3007C>A (p.Pro1003Thr)
NM_001332.4(CTNND2):c.3028T>A (p.Ser1010Thr)
NM_001332.4(CTNND2):c.3046A>C (p.Met1016Leu)
NM_001332.4(CTNND2):c.310T>G (p.Trp104Gly)
NM_001332.4(CTNND2):c.3305C>T (p.Ala1102Val) rs1738243810
NM_001332.4(CTNND2):c.3368T>C (p.Leu1123Ser)
NM_001332.4(CTNND2):c.3395C>G (p.Ala1132Gly)
NM_001332.4(CTNND2):c.3443A>T (p.Glu1148Val)
NM_001332.4(CTNND2):c.38-4G>T
NM_001332.4(CTNND2):c.463G>A (p.Ala155Thr)
NM_001332.4(CTNND2):c.501G>C (p.Gln167His)
NM_001332.4(CTNND2):c.503A>G (p.Tyr168Cys)
NM_001332.4(CTNND2):c.656C>T (p.Ala219Val)
NM_001332.4(CTNND2):c.656CGC[11] (p.Pro224_Pro226dup) rs557341981
NM_001332.4(CTNND2):c.656CGC[5] (p.Pro224_Pro226del) rs557341981
NM_001332.4(CTNND2):c.656CGC[9] (p.Pro226dup) rs557341981
NM_001332.4(CTNND2):c.709G>A (p.Ala237Thr) rs1358615056
NM_001332.4(CTNND2):c.745G>A (p.Ala249Thr)
NM_001332.4(CTNND2):c.785C>A (p.Pro262Gln)
NM_001332.4(CTNND2):c.833C>T (p.Thr278Ile)
NM_001332.4(CTNND2):c.83C>G (p.Thr28Arg)
NM_001332.4(CTNND2):c.938C>T (p.Thr313Ile)
NM_001332.4(CTNND2):c.973G>T (p.Gly325Cys)

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