ClinVar Miner

List of variants in gene CDH1 reported as likely pathogenic for Cleft lip with or without cleft palate

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys) rs1567508990
NM_004360.5(CDH1):c.1766A>T (p.Asn589Ile) rs1367108095
NM_004360.5(CDH1):c.2426_2427del (p.Asn809fs) rs1961434061
NM_004360.5(CDH1):c.752C>T (p.Thr251Met) rs1454205778
NM_004360.5(CDH1):c.760G>A (p.Asp254Asn) rs1555515445
NM_004360.5(CDH1):c.768T>A (p.Asn256Lys) rs759207947

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