List of variants reported as likely pathogenic for hematologic disorder by Solve-RD Consortium

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	rs371085894	0.00001
GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3
GRCh37/hg19 16p12.2(chr16:23619233-23625407)x1
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	rs797044916
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	rs752746786
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)	rs1600586587

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