ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Genomics Facility, Ludwig-Maximilians-Universität München

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NC_000014.9:g.105856013G>T rs2142904095
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys) rs2146813757
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg) rs2122686345
NM_001375808.2(LPIN2):c.2442+3_2442+6del rs2144115996
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052

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