ClinVar Miner

List of variants studied for hematologic disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) rs144315111 0.00267
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927 0.00125
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_181507.2(HPS5):c.240C>T (p.Val80=) rs138423875 0.00006
NM_000081.4(LYST):c.8607A>G (p.Gln2869=) rs369484787 0.00004
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233 0.00001
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_001386140.1(MTTP):c.1770-10T>C rs1194740423

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