List of variants in gene CDH1 studied for Blepharocheilodontic syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.48+181G>C	rs3743675	0.80468
NM_004360.5(CDH1):c.48+6C>T	rs3743674	0.80384
NM_004360.5(CDH1):c.2076T>C (p.Ala692=)	rs1801552	0.70379
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe)	rs1238607560	0.00002
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys)	rs142927667	0.00002
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)	rs587780120	0.00001
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn)	rs1960893142
NM_004360.5(CDH1):c.1320+1G>C	rs886039685
NM_004360.5(CDH1):c.1320G>A (p.Lys440=)
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn)	rs1555515925
NM_004360.5(CDH1):c.1371_1373del (p.Asn458del)	rs2152134773
NM_004360.5(CDH1):c.1626T>G (p.Ile542Met)	rs1961075798
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu)	rs1555517099
NM_004360.5(CDH1):c.466T>G (p.Trp156Gly)
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr)	rs1555515445
NM_004360.5(CDH1):c.779C>T (p.Pro260Leu)	rs1960783816
NM_004360.5(CDH1):c.862G>C (p.Asp288His)	rs2152131922

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