List of variants reported as likely pathogenic by Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)	rs183758503	0.00003
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln)	rs200140363	0.00002
NM_001289080.2(CNTN6):c.566C>A (p.Ser189Ter)	rs773080572
NM_004596.5(SNRPA):c.100T>A (p.Phe34Ile)	rs1555775209
NM_004596.5(SNRPA):c.98T>C (p.Ile33Thr)	rs1555775208
Single allele

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