List of variants studied for Elsahy-Waters syndrome

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001797.4(CDH11):c.811+13A>G	rs35196	0.90306
NM_001797.4(CDH11):c.644-11T>C	rs35194	0.90146
NM_001797.4(CDH11):c.1642+20C>T	rs12597529	0.44238
NM_001797.4(CDH11):c.945G>A (p.Ser315=)	rs28216	0.31019
NM_001797.4(CDH11):c.1253+43G>C	rs35214	0.26060
NM_001797.4(CDH11):c.764C>T (p.Thr255Met)	rs35195	0.24798
NM_001797.4(CDH11):c.825G>A (p.Met275Ile)	rs1130821	0.14418
NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs)	rs1555514463
NM_001797.4(CDH11):c.1117T>G (p.Ser373Ala)	rs35213
NM_001797.4(CDH11):c.2002G>A (p.Gly668Ser)
NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter)	rs1555515924
NM_001797.4(CDH11):c.778G>C (p.Asp260His)
NM_001797.4(CDH11):c.999+1G>T	rs1555515331

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