ClinVar Miner

Variants in gene GALNT12 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
1027 398 0 30 46 0 2 75

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 2 0 0
uncertain significance 2 0 46 3
likely benign 0 46 0 30
benign 0 3 30 0

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024642.5(GALNT12):c.136G>A (p.Gly46Arg) rs10987768 0.03464
NM_024642.5(GALNT12):c.1605+4G>A rs79574929 0.01136
NM_024642.5(GALNT12):c.781G>A (p.Asp261Asn) rs41306504 0.01010
NM_024642.5(GALNT12):c.375C>T (p.Cys125=) rs114902755 0.00592
NM_024642.5(GALNT12):c.579A>G (p.Gly193=) rs146370762 0.00564
NM_024642.5(GALNT12):c.1677C>T (p.Phe559=) rs112898261 0.00465
NM_024642.5(GALNT12):c.1497C>T (p.Asn499=) rs35632007 0.00203
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_024642.5(GALNT12):c.138G>A (p.Gly46=) rs557604978 0.00121
NM_024642.5(GALNT12):c.1301C>T (p.Pro434Leu) rs34565987 0.00117
NM_024642.5(GALNT12):c.567T>C (p.Asn189=) rs150417178 0.00060
NM_024642.5(GALNT12):c.840C>T (p.Asp280=) rs150946638 0.00054
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp) rs149726976 0.00046
NM_024642.5(GALNT12):c.20G>T (p.Arg7Leu) rs568625965 0.00040
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser) rs183981750 0.00039
NM_024642.5(GALNT12):c.750G>A (p.Ser250=) rs146690078 0.00036
NM_024642.5(GALNT12):c.719C>T (p.Pro240Leu) rs59362219 0.00030
NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg) rs376441206 0.00029
NM_024642.5(GALNT12):c.776T>C (p.Val259Ala) rs147356342 0.00026
NM_024642.5(GALNT12):c.303C>G (p.His101Gln) rs201926457 0.00021
NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser) rs531023279 0.00019
NM_024642.5(GALNT12):c.679C>G (p.Leu227Val) rs773546298 0.00018
NM_024642.5(GALNT12):c.1131G>A (p.Leu377=) rs148125332 0.00016
NM_024642.5(GALNT12):c.975G>A (p.Leu325=) rs140471094 0.00015
NM_024642.5(GALNT12):c.329G>A (p.Arg110His) rs374994372 0.00014
NM_024642.5(GALNT12):c.546C>T (p.His182=) rs142210894 0.00009
NM_024642.5(GALNT12):c.164C>T (p.Thr55Ile) rs927193317 0.00008
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser) rs375844934 0.00007
NM_024642.5(GALNT12):c.814G>A (p.Gly272Arg) rs367645298 0.00006
NM_024642.5(GALNT12):c.427G>A (p.Ala143Thr) rs765088669 0.00005
NM_024642.5(GALNT12):c.149C>A (p.Pro50Gln) rs1431572320 0.00004
NM_024642.5(GALNT12):c.504A>G (p.Leu168=) rs768255136 0.00004
NM_024642.5(GALNT12):c.831C>T (p.Gly277=) rs145133746 0.00004
NM_024642.5(GALNT12):c.1703A>G (p.Asn568Ser) rs749874941 0.00003
NM_024642.5(GALNT12):c.312C>T (p.Asn104=) rs569578805 0.00003
NM_024642.5(GALNT12):c.609C>A (p.Asn203Lys) rs370024536 0.00003
NM_024642.5(GALNT12):c.909T>C (p.Asp303=) rs777028537 0.00003
NM_024642.5(GALNT12):c.1277A>G (p.Lys426Arg) rs753534837 0.00002
NM_024642.5(GALNT12):c.1736G>A (p.Arg579His) rs367620732 0.00002
NM_024642.5(GALNT12):c.32C>T (p.Pro11Leu) rs1009053405 0.00002
NM_024642.5(GALNT12):c.372-5T>C rs774029336 0.00002
NM_024642.5(GALNT12):c.404T>C (p.Leu135Ser) rs370705797 0.00002
NM_024642.5(GALNT12):c.1202G>A (p.Arg401His) rs1204571302 0.00001
NM_024642.5(GALNT12):c.1213-10G>T rs768905490 0.00001
NM_024642.5(GALNT12):c.1393G>A (p.Asp465Asn) rs777862536 0.00001
NM_024642.5(GALNT12):c.139G>A (p.Ala47Thr) rs1376691635 0.00001
NM_024642.5(GALNT12):c.1418A>G (p.Gln473Arg) rs757485456 0.00001
NM_024642.5(GALNT12):c.1568A>G (p.Glu523Gly) rs1169647634 0.00001
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=) rs1423291369 0.00001
NM_024642.5(GALNT12):c.1638A>G (p.Lys546=) rs771643059 0.00001
NM_024642.5(GALNT12):c.1652C>T (p.Ala551Val) rs768330574 0.00001
NM_024642.5(GALNT12):c.1655G>A (p.Arg552Lys) rs1285871027 0.00001
NM_024642.5(GALNT12):c.193A>G (p.Met65Val) rs1179298414 0.00001
NM_024642.5(GALNT12):c.731+4C>T rs756809019 0.00001
NM_024642.5(GALNT12):c.837C>T (p.Phe279=) rs754951224 0.00001
NM_024642.5(GALNT12):c.1119C>T (p.Arg373=) rs1836170608
NM_024642.5(GALNT12):c.1241A>G (p.Lys414Arg) rs892227579
NM_024642.5(GALNT12):c.1272C>T (p.Asp424=) rs1420217487
NM_024642.5(GALNT12):c.1392C>G (p.Pro464=) rs35616709
NM_024642.5(GALNT12):c.1392C>T (p.Pro464=) rs35616709
NM_024642.5(GALNT12):c.148C>A (p.Pro50Thr) rs1292953164
NM_024642.5(GALNT12):c.149C>T (p.Pro50Leu) rs1431572320
NM_024642.5(GALNT12):c.1544C>T (p.Thr515Ile) rs1836406734
NM_024642.5(GALNT12):c.154C>T (p.Pro52Ser) rs980755584
NM_024642.5(GALNT12):c.1550T>C (p.Ile517Thr) rs1836407117
NM_024642.5(GALNT12):c.1564G>A (p.Glu522Lys) rs200303625
NM_024642.5(GALNT12):c.158C>T (p.Pro53Leu) rs1209537944
NM_024642.5(GALNT12):c.1664C>T (p.Ser555Leu) rs761631783
NM_024642.5(GALNT12):c.1707G>A (p.Ser569=) rs2273846
NM_024642.5(GALNT12):c.193A>T (p.Met65Leu) rs1179298414
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr) rs1005081558
NM_024642.5(GALNT12):c.670C>T (p.Leu224=) rs2490502192
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter) rs1197184207
NM_024642.5(GALNT12):c.732G>A (p.Arg244=) rs1318889911
NM_024642.5(GALNT12):c.903C>T (p.Pro301=) rs191834824

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