List of variants reported as pathogenic for hematologic disorder by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)	rs1591031929
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)	rs1590007244
NM_000488.4(SERPINC1):c.624+1G>A	rs1572090079
NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)
NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter)
NM_019616.4(F7):c.225+1G>C	rs1566906827

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