ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs)
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.[2316+1_2316+3del];[2778+1G>A]
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000377.3(WAS):c.464-11T>G
NM_000397.4(CYBB):c.1075G>A (p.Gly359Arg)
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
NM_001018115.3(FANCD2):c.1948-16T>G rs2087653225
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) rs201139487
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060

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