ClinVar Miner

List of variants reported as pathogenic for acquired aplastic anemia by GeneReviews

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_012461.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.2(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NR_001566.1(TERC):n.-100C>G rs199422256
NR_001566.1(TERC):n.110_113del rs199422270
NR_001566.1(TERC):n.117A>C rs199422273
NR_001566.1(TERC):n.178G>A rs199422275
NR_001566.1(TERC):n.180C>T rs199422276
NR_001566.1(TERC):n.28_34del rs199422259
NR_001566.1(TERC):n.305G>A rs199422279
NR_001566.1(TERC):n.322G>A rs199422280
NR_001566.1(TERC):n.323C>T rs199422281
NR_001566.1(TERC):n.391_392del rs199422283
NR_001566.1(TERC):n.450G>A rs199422287
NR_001566.1(TERC):n.58G>A rs113487931
NR_001566.1(TERC):n.72C>G rs199422265

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