ClinVar Miner

Variants in gene GABRA1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
542 49 0 25 19 0 20 58

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 12 0 0
likely pathogenic 3 0 9 0 0
uncertain significance 12 9 0 16 8
likely benign 0 0 16 0 22
benign 0 0 8 22 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028 0.01067
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) rs113886269 0.00087
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746 0.00022
NM_001127644.2(GABRA1):c.74+19A>G rs370522819 0.00020
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His) rs80337021 0.00012
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00011
NM_001127644.2(GABRA1):c.*2T>A rs762836110 0.00010
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=) rs551045474 0.00005
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=) rs74873701 0.00004
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=) rs79593368 0.00002
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=) rs587780947 0.00002
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=) rs75423500 0.00002
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001127644.2(GABRA1):c.857-3C>T rs1323709924 0.00001
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu) rs1755409878
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn) rs796052487
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.289T>A (p.Trp97Arg)
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=) rs1581175017
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127644.2(GABRA1):c.454G>A (p.Gly152Ser) rs2113381632
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.703+8C>A rs376693195
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.75-4dup rs563768487
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127644.2(GABRA1):c.857-9dup rs3214859
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp) rs1554087620
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) rs1581220210
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354

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