ClinVar Miner

List of variants in gene CDH3 studied for Congenital hypotrichosis with juvenile macular dystrophy

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001793.6(CDH3):c.390+37T>C rs2296410 0.87073
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409 0.63066
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408 0.62977
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405 0.62283
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239 0.61024
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_001793.6(CDH3):c.160+117G>A rs2236393 0.44521
NM_001793.6(CDH3):c.247-38A>G rs1952048 0.43462
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter) rs779888126 0.00001
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) rs121434542 0.00001
NM_001793.6(CDH3):c.160+1G>A rs1474181679 0.00001
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter) rs761941770 0.00001
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr) rs1597809479
NM_001793.6(CDH3):c.1795+1G>C rs752131891
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) rs1597817636
NM_001793.6(CDH3):c.2281-45A>C rs3114409
NM_001793.6(CDH3):c.830del (p.Gly277fs) rs724159985
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)
NM_001793.6(CDH3):c.981del (p.Met327fs) rs724159984

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