List of variants reported as likely pathogenic for hematologic disorder by Department of Genetic, Henri Mondor Hospital, Assistance Publique des Hôpitaux de Paris

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)	rs142775522	0.00499
NM_000342.4(SLC4A1):c.695-3C>A	rs772264078	0.00001
NM_000037.4(ANK1):c.1A>G (p.Met1Val)	rs1554627073
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)	rs1555596165
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	rs866727908
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)	rs150471537
NM_001355436.2(SPTB):c.4973+5G>A	rs1555367789
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	rs1555371769
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)	rs1557230573
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=)	rs1553232007
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)	rs41273519
NM_003126.4(SPTA1):c.6600+5G>T	rs1462060431

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