ClinVar Miner

List of variants studied for hematologic disorder by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe) rs751947187 0.00002
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000460.4(THPO):c.13+2T>C rs1714390786
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892

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