List of variants in gene combination MED12L, P2RY12 reported as pathogenic for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_022788.5(P2RY12):c.767G>A (p.Arg256Gln)	rs121917885	0.00004
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)	rs202099742	0.00001
NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp)	rs121917886	0.00001
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro)	rs755459581	0.00001
NM_022788.5(P2RY12):c.717_718del (p.Ile240fs)	rs1560045738

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