ClinVar Miner

List of variants studied for anemia by UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001002010.5(NT5C3A):c.166C>T (p.Arg56Ter) rs753346459 0.00001
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu) rs772330879 0.00001
NM_001358263.1(HK1):c.75+20308C>T rs756166032 0.00001
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) rs2146715075
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs) rs2150635518
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) rs2150585752
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs) rs2150563560
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) rs1674554041
NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg) rs1567831936
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter) rs2144601154
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val) rs121912741
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile) rs2142314789
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) rs2139621075
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter) rs2139594261
NM_001355436.2(SPTB):c.2647del (p.Leu883fs) rs2139592237
NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs) rs2139567892
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter) rs2139555500
NM_001355436.2(SPTB):c.4842+1G>C rs2139513700
NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro) rs1969582489
NM_003126.4(SPTA1):c.3477+1G>C rs2101857591

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