List of variants reported as pathogenic by Fundacion Rioja Salud, Center for Biomedical Research (CIBIR)

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.4382C>T (p.Pro1461Leu)	rs760462252	0.00001
NM_000091.5(COL4A3):c.4474A>T (p.Ser1492Cys)	rs1057519377
NM_000091.5(COL4A3):c.998G>C (p.Gly333Ala)	rs1057519376
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter)	rs886041830
NM_001429.4(EP300):c.3728+5G>C	rs1114167305
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys)	rs1114167306
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)	rs1555912040
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	rs587778256
NM_001429.4(EP300):c.70_71del (p.Ser24fs)	rs1555902247
NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs)	rs1057519375
NM_004360.5(CDH1):c.1220del (p.Pro407fs)	rs886037822

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