ClinVar Miner

List of variants reported as likely benign for acquired aplastic anemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_000619.3(IFNG):c.*500C>T rs528060683 0.00016
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_000619.3(IFNG):c.*465A>T rs532081510 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087

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