ClinVar Miner

Variants in gene LAMA4 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
1341 250 0 65 53 0 1 111

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 52 7
likely benign 0 52 0 65
benign 0 7 65 0

All variants with conflicting interpretations #

Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_001105206.3(LAMA4):c.195+144T>C rs147118520 0.01345
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001105206.3(LAMA4):c.422+20G>T rs188820838 0.00271
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545 0.00214
NM_001105206.3(LAMA4):c.195+131C>G rs138579810 0.00210
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001105206.3(LAMA4):c.924T>C (p.His308=) rs143580603 0.00205
NM_001105206.3(LAMA4):c.2250G>A (p.Gln750=) rs112305543 0.00180
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_001105206.3(LAMA4):c.297+8G>A rs200595773 0.00075
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=) rs139241892 0.00050
NM_001105206.3(LAMA4):c.4665+15G>A rs377415750 0.00049
NM_001105206.3(LAMA4):c.*1C>T rs148811960 0.00048
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His) rs73532636 0.00048
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) rs186498011 0.00045
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) rs141926228 0.00035
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His) rs140346737 0.00028
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=) rs3752580 0.00014
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) rs150809897 0.00014
NM_001105206.3(LAMA4):c.2977-16T>A rs368833887 0.00014
NM_001105206.3(LAMA4):c.3558-7T>C rs200864778 0.00014
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu) rs145986920 0.00011
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720 0.00011
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) rs151119304 0.00010
NM_001105206.3(LAMA4):c.1551+4C>T rs201209516 0.00010
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu) rs781966924 0.00009
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr) rs727504595 0.00008
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723 0.00007
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=) rs147822567 0.00006
NM_001105206.3(LAMA4):c.1551+8G>A rs782128294 0.00006
NM_001105206.3(LAMA4):c.1960-3T>C rs373682270 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001105206.3(LAMA4):c.225G>A (p.Leu75=) rs137948709 0.00006
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) rs200589775 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342 0.00006
NM_001105206.3(LAMA4):c.4287+16G>A rs140156070 0.00006
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr) rs377204776 0.00006
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs) rs782327744 0.00006
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile) rs146225813 0.00006
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 0.00005
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=) rs782303510 0.00004
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) rs727503113 0.00004
NM_001105206.3(LAMA4):c.967-16A>G rs80110492 0.00004
NM_001105206.3(LAMA4):c.1411T>C (p.Phe471Leu) rs782067046 0.00003
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) rs782319667 0.00003
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849 0.00003
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr) rs576711704 0.00003
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001105206.3(LAMA4):c.2494-13T>C rs576422943 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr) rs781943786 0.00002
NM_001105206.3(LAMA4):c.815-13G>A rs372004668 0.00002
NM_001105206.3(LAMA4):c.1854G>A (p.Gln618=) rs587781014 0.00001
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile) rs141742906 0.00001
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser) rs542157463 0.00001
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) rs781919095 0.00001
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=) rs397516734 0.00001
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) rs727503116
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) rs727503115
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) rs149459643
NM_001105206.3(LAMA4):c.1777C>T (p.His593Tyr)
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=) rs189313630
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.3(LAMA4):c.3111-18G>A rs80168443
NM_001105206.3(LAMA4):c.3166G>A (p.Gly1056Ser) rs145321940
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val) rs782225670
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822

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