ClinVar Miner

Variants in gene LAMA1 with conflicting interpretations

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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
1036 113 0 34 30 0 0 57

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 4 0 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 0 0 0 26 11
likely benign 0 0 26 0 30
benign 0 0 11 30 0

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.1673C>T (p.Ala558Val) rs143997842 0.00351
NM_005559.4(LAMA1):c.3294G>A (p.Ser1098=) rs149157836 0.00322
NM_005559.4(LAMA1):c.2299G>A (p.Val767Ile) rs149611371 0.00302
NM_005559.4(LAMA1):c.5302G>A (p.Val1768Met) rs73938527 0.00297
NM_005559.4(LAMA1):c.8253G>A (p.Leu2751=) rs139713073 0.00271
NM_005559.4(LAMA1):c.3559T>C (p.Leu1187=) rs141269552 0.00230
NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val) rs144738522 0.00225
NM_005559.4(LAMA1):c.2186G>A (p.Arg729His) rs144429570 0.00222
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln) rs116690149 0.00203
NM_005559.4(LAMA1):c.5481A>G (p.Val1827=) rs138711280 0.00201
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu) rs144278838 0.00198
NM_005559.4(LAMA1):c.6840A>G (p.Lys2280=) rs113914459 0.00196
NM_005559.4(LAMA1):c.3946G>A (p.Asp1316Asn) rs149753863 0.00183
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=) rs150849018 0.00180
NM_005559.4(LAMA1):c.4554C>T (p.His1518=) rs145068849 0.00176
NM_005559.4(LAMA1):c.5794C>G (p.Leu1932Val) rs115759032 0.00168
NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp) rs141851670 0.00161
NM_005559.4(LAMA1):c.5660+7A>G rs144775658 0.00157
NM_005559.4(LAMA1):c.4692G>A (p.Leu1564=) rs147374927 0.00150
NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=) rs145257845 0.00144
NM_005559.4(LAMA1):c.665G>A (p.Arg222Gln) rs112194576 0.00142
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_005559.4(LAMA1):c.4550T>A (p.Val1517Asp) rs146822562 0.00132
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile) rs147676957 0.00128
NM_005559.4(LAMA1):c.6250C>T (p.Arg2084Trp) rs146111631 0.00126
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln) rs150940045 0.00114
NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr) rs142934543 0.00094
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_005559.4(LAMA1):c.6025G>A (p.Ala2009Thr) rs147813944 0.00079
NM_005559.4(LAMA1):c.3145G>A (p.Val1049Met) rs138476816 0.00059
NM_005559.4(LAMA1):c.3522C>T (p.Ser1174=) rs139418084 0.00045
NM_005559.4(LAMA1):c.5789C>T (p.Thr1930Met) rs142286229 0.00036
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr) rs146148365 0.00027
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met) rs148234507 0.00026
NM_005559.4(LAMA1):c.6801T>C (p.His2267=) rs200986684 0.00024
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_005559.4(LAMA1):c.2136G>T (p.Pro712=) rs139988519 0.00016
NM_005559.4(LAMA1):c.858+1G>T rs141914419 0.00012
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg) rs769644598 0.00007
NM_005559.4(LAMA1):c.5832C>T (p.Ala1944=) rs530014646 0.00006
NM_005559.4(LAMA1):c.4618G>A (p.Asp1540Asn) rs373453681 0.00004
NM_005559.4(LAMA1):c.465C>T (p.Ser155=) rs192198427 0.00004
NM_005559.4(LAMA1):c.7875C>T (p.Val2625=) rs114578861 0.00004
NM_005559.4(LAMA1):c.126C>T (p.Gly42=) rs540825771 0.00003
NM_005559.4(LAMA1):c.8314C>T (p.Arg2772Cys) rs760542877 0.00002
NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His) rs548903685 0.00002
NM_005559.4(LAMA1):c.1034del (p.Gln345fs) rs1373970320 0.00001
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter) rs758223206 0.00001
NM_005559.4(LAMA1):c.4735A>G (p.Asn1579Asp) rs542801679 0.00001
NM_005559.4(LAMA1):c.7051-9T>A rs1472738373 0.00001
NM_005559.4(LAMA1):c.3215G>T (p.Arg1072Leu) rs118089415
NM_005559.4(LAMA1):c.4066G>A (p.Ala1356Thr)
NM_005559.4(LAMA1):c.6200C>G (p.Ala2067Gly) rs143853128
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
NM_005559.4(LAMA1):c.768+1G>A rs769174266

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