ClinVar Miner

List of variants studied for aplastic anemia by GeneReviews

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_001142283.1(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_001142283.1(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_001142283.1(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_004629.1(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.925-2A>G rs397507561
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.3(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.3(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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