ClinVar Miner

List of variants reported as uncertain significance for acquired aplastic anemia

Included ClinVar conditions (18):
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Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*500C>T rs528060683
NM_000619.3(IFNG):c.*93_*96TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-34T>G rs752463155
NM_000619.3(IFNG):c.-5A>G rs181407537
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.114+11C>T rs200610212
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_001193376.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_001193376.2(TERT):c.887A>C (p.His296Pro) rs778187343
NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) rs72650673
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614
NM_016434.3(RTEL1):c.2627_2629AGA[1] (p.Lys877del) rs1555812473
NM_198253.2(TERT):c.*104C>T rs886059830
NM_198253.2(TERT):c.*230T>C rs751808151
NM_198253.2(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.2(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.2(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.2(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2781A>G (p.Leu927=) rs370292237
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.880C>T (p.His294Tyr) rs886059906
NR_001566.1(TERC):n.36C>T rs1248582778

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