ClinVar Miner

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

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Total variants: 5
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NM_001006657.2(WDR35):c.1415G>A (p.Arg472Gln) rs200140363
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
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) rs183758503

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