List of variants studied for hematologic disorder by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)	rs137998687	0.00016
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)	rs201720797	0.00003
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NM_001374504.1(TMPRSS6):c.2134C>T (p.Gln712Ter)	rs775869554	0.00001
NM_014915.3(ANKRD26):c.-126T>C	rs1589393792	0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)	rs386834055	0.00001
NM_000173.7(GP1BA):c.104del (p.Lys35fs)	rs1555549041
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
NM_001377304.1(GFI1B):c.724del (p.His242fs)	rs1564180346
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)	rs1555563717
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs)	rs875989882

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