List of variants reported as pathogenic for bone disorder by Institute of Laboratory Medicine, Hospital Wels-Grieskirchen

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001127208.3(TET2):c.5618T>C (p.Ile1873Thr)	rs116519313
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)	rs751713049
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)	rs2516817630
NM_015338.6(ASXL1):c.1892_1938del (p.His631fs)	rs2515552708

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