ClinVar Miner

List of variants reported as benign for acquired aplastic anemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_000619.3(IFNG):c.*180C>T rs2069722 0.01606
NM_000619.3(IFNG):c.*539A>G rs2069723 0.01255
NM_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_015937.6(PIGT):c.594+36dup rs3092108

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