List of variants reported as pathogenic for hematologic disorder by MVZ Dr. Eberhard & Partner Dortmund

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.6788+11C>T	rs779537034	0.00002
NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)	rs1566754467
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs)	rs1553234309

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