List of variants reported as likely pathogenic by Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)	rs752200396	0.00011
GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1
GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3
GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3
GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1
NM_000193.4(SHH):c.808C>T (p.His270Tyr)	rs2117128026
NM_000257.4(MYH7):c.671A>T (p.Asn224Ile)	rs727505148
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys)	rs1057516168

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