List of variants in gene MECOM reported as likely pathogenic for Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004991.4(MECOM):c.2398A>T (p.Lys800Ter)	rs1475580175
NM_004991.4(MECOM):c.2772-4A>G	rs2549269204
NM_004991.4(MECOM):c.2836G>A (p.Glu946Lys)
NM_004991.4(MECOM):c.2842C>G (p.Pro948Ala)
NM_004991.4(MECOM):c.739C>T (p.Gln247Ter)	rs1240852654

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