List of variants reported as pathogenic for Thrombocythemia 1

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)	rs202080221	0.00066
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	rs148636776	0.00025
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)	rs765476509	0.00002
NM_000460.4(THPO):c.-31G>T	rs771269271
NM_000460.4(THPO):c.-47del	rs1714397896
NM_000460.4(THPO):c.13+1G>C	rs2108623965
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)	rs1555760738

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