ClinVar Miner

List of variants reported as likely benign for hematologic disorder by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 0.00235
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
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_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.1169-7del rs746626720

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