ClinVar Miner

List of variants reported as uncertain significance for anemia (disease) by Mendelics

Included ClinVar conditions (264):
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Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_032043.2(BRIP1):c.-22C>A
NM_032043.2(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.2(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.2(BRIP1):c.1066C>G (p.Arg356Gly)
NM_032043.2(BRIP1):c.1131A>G (p.Ile377Met)
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.2(BRIP1):c.1341-3C>G rs864622597
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.2(BRIP1):c.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.2(BRIP1):c.1935+5G>A rs1209289625
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2379+5G>C rs1567779316
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.2(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.2(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.2(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.2(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.2(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.2(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.2(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.2(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.2(BRIP1):c.588C>G (p.Asn196Lys)
NM_032043.2(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.2(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.2(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.2(BRIP1):c.991A>T (p.Met331Leu) rs1380876424

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