List of variants in gene CDH1 reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	rs587780784	0.00001
NM_004360.4(CDH1):c.2440_2649del
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)	rs876659208
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)	rs876658261
NM_004360.5(CDH1):c.1565+1G>T	rs587780113
NM_004360.5(CDH1):c.1605del (p.Asn536fs)	rs1596960393
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)	rs746481984
NM_004360.5(CDH1):c.1711+1G>A	rs886041161
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)	rs121964877
NM_004360.5(CDH1):c.1999del (p.Leu667fs)	rs786202033
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)	rs587781276
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)	rs587780787
NM_004360.5(CDH1):c.2296-1G>A	rs1057517542
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	rs1555509646
NM_004360.5(CDH1):c.377del (p.Pro126fs)	rs1060501215
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)	rs878854691
NM_004360.5(CDH1):c.51_163+2del	rs1567471351
NM_004360.5(CDH1):c.603del (p.Val202fs)	rs1131690809
NM_004360.5(CDH1):c.801del (p.Phe267fs)
NM_004360.5(CDH1):c.833-2A>G	rs1555515596

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