ClinVar Miner

Variants in gene LAMA5 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
1275 198 0 62 19 0 7 88

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 0 1 0 0
likely pathogenic 0 0 4 2 0
uncertain significance 1 4 0 18 1
likely benign 0 2 18 0 62
benign 0 0 1 62 0

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005560.6(LAMA5):c.8832C>T (p.Ser2944=) rs142296998 0.00613
NM_005560.6(LAMA5):c.7374C>T (p.Ala2458=) rs146174815 0.00582
NM_005560.6(LAMA5):c.7305C>T (p.Asp2435=) rs142980035 0.00578
NM_005560.6(LAMA5):c.5203G>A (p.Val1735Met) rs45496002 0.00548
NM_005560.6(LAMA5):c.5627G>T (p.Gly1876Val) rs148177752 0.00506
NM_005560.6(LAMA5):c.7059G>A (p.Gln2353=) rs144109924 0.00492
NM_005560.6(LAMA5):c.8665C>T (p.Pro2889Ser) rs138708242 0.00426
NM_005560.6(LAMA5):c.3283-8C>G rs148811850 0.00411
NM_005560.6(LAMA5):c.8898C>T (p.Phe2966=) rs117076754 0.00376
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala) rs144009130 0.00316
NM_005560.6(LAMA5):c.2049C>G (p.Gly683=) rs75464861 0.00292
NM_005560.6(LAMA5):c.8091G>C (p.Leu2697=) rs41296219 0.00282
NM_005560.6(LAMA5):c.5790G>A (p.Leu1930=) rs138911913 0.00238
NM_005560.6(LAMA5):c.6754G>A (p.Gly2252Ser) rs202167421 0.00171
NM_005560.6(LAMA5):c.4311A>T (p.Pro1437=) rs151096227 0.00159
NM_005560.6(LAMA5):c.9390C>T (p.His3130=) rs138705828 0.00123
NM_005560.6(LAMA5):c.3066C>T (p.Leu1022=) rs139992490 0.00110
NM_005560.6(LAMA5):c.2321C>T (p.Thr774Ile) rs145721906 0.00098
NM_005560.6(LAMA5):c.3252C>T (p.His1084=) rs201249114 0.00093
NM_005560.6(LAMA5):c.1134C>T (p.Arg378=) rs142876888 0.00078
NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys) rs141989486 0.00074
NM_005560.6(LAMA5):c.5772C>T (p.Phe1924=) rs146304356 0.00068
NM_005560.6(LAMA5):c.2109G>A (p.Thr703=) rs143941434 0.00063
NM_005560.6(LAMA5):c.4599C>T (p.Pro1533=) rs138240481 0.00061
NM_005560.6(LAMA5):c.2919G>A (p.Thr973=) rs147701856 0.00058
NM_005560.6(LAMA5):c.2829C>T (p.Ser943=) rs151209097 0.00053
NM_005560.6(LAMA5):c.9183C>T (p.Asp3061=) rs145862467 0.00053
NM_005560.6(LAMA5):c.10261C>A (p.Arg3421=) rs201094237 0.00041
NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098 0.00030
NM_005560.6(LAMA5):c.6255C>T (p.Ser2085=) rs374792052 0.00026
NM_005560.6(LAMA5):c.6206C>T (p.Pro2069Leu) rs201193135 0.00024
NM_005560.6(LAMA5):c.6368G>A (p.Arg2123His) rs374836875 0.00019
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088 0.00010
NM_005560.6(LAMA5):c.3728C>T (p.Pro1243Leu) rs756101090 0.00009
NM_005560.6(LAMA5):c.4213G>A (p.Ala1405Thr) rs779995373 0.00009
NM_005560.6(LAMA5):c.6740C>T (p.Ala2247Val) rs201066079 0.00009
NM_005560.6(LAMA5):c.6567C>T (p.His2189=) rs199690960 0.00008
NM_005560.6(LAMA5):c.5721C>T (p.Ser1907=) rs780626116 0.00007
NM_005560.6(LAMA5):c.6819C>A (p.Gly2273=) rs566795195 0.00006
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys) rs377244239 0.00004
NM_005560.6(LAMA5):c.9065C>T (p.Ser3022Leu) rs546335527 0.00004
NM_005560.6(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500 0.00002
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp) rs201012962 0.00002
NM_005560.6(LAMA5):c.10282-4C>T
NM_005560.6(LAMA5):c.10361G>A (p.Arg3454Gln)
NM_005560.6(LAMA5):c.10419G>A (p.Pro3473=)
NM_005560.6(LAMA5):c.10688A>G (p.Gln3563Arg)
NM_005560.6(LAMA5):c.10735-3_10735-2insCCCTTCCTACCCCT rs762469320
NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp)
NM_005560.6(LAMA5):c.10745G>A (p.Arg3582Gln)
NM_005560.6(LAMA5):c.10868C>T (p.Ala3623Val) rs140197067
NM_005560.6(LAMA5):c.11053G>A (p.Gly3685Arg) rs138468519
NM_005560.6(LAMA5):c.1132C>T (p.Arg378Cys)
NM_005560.6(LAMA5):c.2659C>T (p.His887Tyr)
NM_005560.6(LAMA5):c.2924C>T (p.Pro975Leu)
NM_005560.6(LAMA5):c.3062C>T (p.Ala1021Val)
NM_005560.6(LAMA5):c.3606C>G (p.Pro1202=)
NM_005560.6(LAMA5):c.3985G>A (p.Ala1329Thr)
NM_005560.6(LAMA5):c.4179C>G (p.Pro1393=)
NM_005560.6(LAMA5):c.4316G>A (p.Gly1439Asp)
NM_005560.6(LAMA5):c.4607A>G (p.Gln1536Arg)
NM_005560.6(LAMA5):c.5712C>T (p.Asp1904=)
NM_005560.6(LAMA5):c.5724C>T (p.Ala1908=)
NM_005560.6(LAMA5):c.6207G>A (p.Pro2069=)
NM_005560.6(LAMA5):c.630C>T (p.Asp210=)
NM_005560.6(LAMA5):c.6360T>G (p.Pro2120=)
NM_005560.6(LAMA5):c.6413G>T (p.Ser2138Ile)
NM_005560.6(LAMA5):c.6476G>C (p.Gly2159Ala)
NM_005560.6(LAMA5):c.6558C>T (p.Pro2186=)
NM_005560.6(LAMA5):c.6805G>A (p.Glu2269Lys)
NM_005560.6(LAMA5):c.6940C>T (p.Arg2314Trp)
NM_005560.6(LAMA5):c.7114G>A (p.Asp2372Asn) rs111653839
NM_005560.6(LAMA5):c.7134G>C (p.Glu2378Asp)
NM_005560.6(LAMA5):c.7211G>A (p.Arg2404His) rs144740011
NM_005560.6(LAMA5):c.7416G>A (p.Met2472Ile)
NM_005560.6(LAMA5):c.759C>T (p.Phe253=)
NM_005560.6(LAMA5):c.7605C>G (p.Ala2535=) rs41296211
NM_005560.6(LAMA5):c.8121C>T (p.Asn2707=)
NM_005560.6(LAMA5):c.8154C>T (p.Arg2718=)
NM_005560.6(LAMA5):c.8484C>T (p.Phe2828=)
NM_005560.6(LAMA5):c.8768C>T (p.Thr2923Met)
NM_005560.6(LAMA5):c.8792+4C>T
NM_005560.6(LAMA5):c.8976C>T (p.Ala2992=)
NM_005560.6(LAMA5):c.9503C>T (p.Pro3168Leu)
NM_005560.6(LAMA5):c.956+6G>T
NM_005560.6(LAMA5):c.9696C>T (p.Pro3232=)
NM_005560.6(LAMA5):c.9726G>A (p.Pro3242=)
NM_005560.6(LAMA5):c.9984C>T (p.Cys3328=)

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