ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Lifecell International Pvt. Ltd

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000558.5(HBA1):c.300+1G>A rs758093235
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_022081.6(HPS4):c.133-2A>T

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