ClinVar Miner

Variants with conflicting interpretations studied for Anemia, nonspherocytic hemolytic, due to G6PD deficiency

Coded as:
Minimum review status of the submission for Anemia, nonspherocytic hemolytic, due to G6PD deficiency: Y axis collection method of the submission for Anemia, nonspherocytic hemolytic, due to G6PD deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
7 3 0 4 2 31 5 33

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Anemia, nonspherocytic hemolytic, due to G6PD deficiency pathogenic likely pathogenic uncertain significance likely benign benign drug response other
pathogenic 0 3 4 1 1 1 30
likely pathogenic 3 0 1 0 0 0 3
uncertain significance 3 1 0 1 1 0 2
benign 0 0 1 0 0 0 0

Condition to condition summary #

Total conditions: 57
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 10 0 4 1 0 4 8
Glucose 6 phosphate dehydrogenase deficiency 0 4 0 2 2 0 2 5
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 35 4 0 2 0 0 2 4
Susceptibility to malaria; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 3 0 2 0 0 2 4
Inborn genetic diseases 0 0 0 1 0 0 1 2
Angioedema induced by ACE inhibitors, susceptibility to 0 0 0 0 0 0 1 1
Bone mineral density quantitative trait locus 18 0 0 0 0 1 0 1 1
G6PD A+ 0 0 0 0 0 1 0 1
G6PD AGRIGENTO 0 0 0 0 0 1 0 1
G6PD ALHAMBRA 0 0 0 0 0 1 0 1
G6PD AMSTERDAM 0 0 0 0 0 1 0 1
G6PD ANAHEIM 0 0 0 0 0 1 0 1
G6PD ANANT 0 0 0 0 0 1 0 1
G6PD ASAHI 0 0 0 0 0 1 0 1
G6PD AURES 0 0 0 0 0 1 0 1
G6PD AVEIRO 0 0 0 0 0 1 0 1
G6PD CAGLIARI 0 0 0 0 0 1 0 1
G6PD CANTON 0 0 0 0 0 1 0 1
G6PD CHATHAM 0 0 0 0 0 1 0 1
G6PD DHON 0 0 0 0 0 1 0 1
G6PD GAOHE 0 0 0 0 0 1 0 1
G6PD GASTONIA 0 0 0 0 0 1 0 1
G6PD GIFU 0 0 0 0 0 1 0 1
G6PD GUADALAJARA 0 0 0 0 0 1 0 1
G6PD JAMMU 0 0 0 0 0 1 0 1
G6PD JAPAN 0 0 0 0 0 1 0 1
G6PD KAIPING 0 0 0 0 0 1 0 1
G6PD KALYAN 0 0 0 0 0 1 0 1
G6PD KERALA 0 0 0 0 0 1 0 1
G6PD KERALA-KALYAN 0 0 0 0 0 1 0 1
G6PD LOMA LINDA 0 0 0 0 0 1 0 1
G6PD MAHIDOL 0 0 0 0 0 1 0 1
G6PD MARION 0 0 0 0 0 1 0 1
G6PD MEDITERRANEAN 0 0 0 0 0 1 0 1
G6PD MINNESOTA 0 0 0 0 0 1 0 1
G6PD MODENA 0 0 0 0 0 1 0 1
G6PD NARA 0 0 0 0 0 1 0 1
G6PD NASHVILLE 0 0 0 0 0 1 0 1
G6PD ORISSA 0 0 0 0 0 1 0 1
G6PD PAWNEE 0 0 0 0 0 1 0 1
G6PD PETRICH-LIKE 0 0 0 0 0 1 0 1
G6PD PORTICI 0 0 0 0 0 1 0 1
G6PD PUERTO LIMON 0 0 0 0 0 1 0 1
G6PD QUING YUAN 0 0 0 0 0 1 0 1
G6PD REHOVOT 0 0 0 0 0 1 0 1
G6PD SANTIAGO 0 0 0 0 0 1 0 1
G6PD SANTIAGO DE CUBA 0 0 0 0 0 1 0 1
G6PD SAPPORO-LIKE 0 0 0 0 0 1 0 1
G6PD SASSARI 0 0 0 0 0 1 0 1
G6PD SEATTLE-LIKE 0 0 0 0 0 1 0 1
G6PD SERRES 0 0 0 0 0 1 0 1
G6PD SUNDERLAND 0 0 0 0 0 1 0 1
G6PD TAIWAN-HAKKA 0 0 0 0 0 1 0 1
G6PD TAIWAN-HAKKA 2 0 0 0 0 0 1 0 1
G6PD VIANGCHAN 0 0 0 0 0 1 0 1
Parkinsonism with spasticity, X-linked 0 0 0 0 0 0 1 1
chlorproguanil and dapsone response - Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
G6PD AMSTERDAM
G6PD NARA rs587776730
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) rs137852336
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340
NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) rs137852338
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_001042351.2(G6PD):c.1288-10_1288-9delTC rs199586268
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693

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