List of variants reported as pathogenic for hematologic disorder by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	rs1800578	0.00057
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	rs121913059	0.00019
NM_000064.4(C3):c.193A>C (p.Lys65Gln)	rs539992721	0.00005
NM_172351.3(CD46):c.286+2T>G	rs769742294	0.00004
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)	rs1918142335
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter)	rs1328357943
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)	rs1652987369
NM_000186.4(CFH):c.3493+2T>C	rs1652989506
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)	rs121913051
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_172351.3(CD46):c.476-1G>A	rs1441390681

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