List of variants in gene CDH1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	rs587780784	0.00001
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)	rs786201045
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)	rs1555515731
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	rs587783050
NM_004360.5(CDH1):c.1189A>T (p.Lys397Ter)	rs1960892947
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)	rs1962423346
NM_004360.5(CDH1):c.1212del (p.Asn405fs)	rs1597895871
NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)	rs1567507825
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	rs1555509636
NM_004360.5(CDH1):c.1307del (p.Ile435_Leu436insTer)	rs2152133642
NM_004360.5(CDH1):c.1380del (p.Pro461fs)	rs1567508847
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)	rs1597897893
NM_004360.5(CDH1):c.1443del (p.Asn481fs)	rs1555516137
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)	rs876659208
NM_004360.5(CDH1):c.1565+1G>A	rs587780113
NM_004360.5(CDH1):c.1605del (p.Asn536fs)	rs1596960393
NM_004360.5(CDH1):c.1710del (p.Asn570fs)	rs1961081411
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)	rs121964877
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	rs121964878
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)	rs730881653
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.2144del (p.Gly715fs)	rs1555517153
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	rs876658932
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)	rs587780787
NM_004360.5(CDH1):c.2296-1G>A	rs1057517542
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)	rs1375617541
NM_004360.5(CDH1):c.2430del (p.Phe810fs)	rs786203752
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	rs1555509646
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)	rs781409616
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	rs1555509623
NM_004360.5(CDH1):c.382del (p.His128fs)	rs1555514492
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)	rs1555515197
NM_004360.5(CDH1):c.455_465del (p.Gln152fs)	rs1555515210
NM_004360.5(CDH1):c.457_460del (p.Lys153fs)	rs1555515214
NM_004360.5(CDH1):c.603del (p.Val202fs)	rs1131690809
NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter)	rs895188181

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