ClinVar Miner

Variants in gene GNAS 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
914 145 0 55 21 0 13 83

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 17 5 0 0
likely pathogenic 17 0 10 0 0
uncertain significance 5 10 0 21 4
likely benign 0 0 21 0 38
benign 0 0 4 38 0

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.06127
NM_016592.5(GNAS):c.294C>T (p.Pro98=) rs1800902 0.04961
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_080425.4(GNAS):c.525T>C (p.Ser175=) rs114255910 0.00782
NM_080425.4(GNAS):c.500A>G (p.Asp167Gly) rs61749695 0.00734
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_016592.5(GNAS):c.441G>A (p.Pro147=) rs77400319 0.00146
NM_080425.4(GNAS):c.196G>A (p.Glu66Lys) rs200924357 0.00145
NM_000516.7(GNAS):c.306G>A (p.Ala102=) rs117849691 0.00131
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_000516.7(GNAS):c.9C>T (p.Cys3=) rs200810763 0.00061
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00019
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala) rs776846313 0.00018
NM_000516.7(GNAS):c.530+10C>T rs199499878 0.00016
NM_080425.4(GNAS):c.1524C>T (p.Ala508=) rs111796234 0.00014
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg) rs200409817 0.00011
NM_000516.7(GNAS):c.18C>T (p.Asn6=) rs543390941 0.00010
NM_000516.7(GNAS):c.585+6C>T rs373084986 0.00009
NM_000516.7(GNAS):c.90G>A (p.Leu30=) rs144260225 0.00008
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000516.7(GNAS):c.102G>A (p.Lys34=) rs1177100316 0.00003
NM_016592.5(GNAS):c.514G>A (p.Asp172Asn) rs376154152 0.00003
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla) rs745433225
NM_000516.7(GNAS):c.-18GCC[8] (p.Met1_Gly2insAlaAla) rs745433225
NM_000516.7(GNAS):c.-18_-16GCC[9] rs745433225
NM_000516.7(GNAS):c.-4_2del (p.Met1del) rs1085307719
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1110_1111del (p.Asn371fs)
NM_000516.7(GNAS):c.138G>A (p.Leu46=) rs760146185
NM_000516.7(GNAS):c.213-5A>G rs763548893
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) rs2146178601
NM_000516.7(GNAS):c.305C>T (p.Ala102Val) rs1131691999
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter) rs2146178875
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr)
NM_000516.7(GNAS):c.324C>T (p.Ala108=)
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.445_446del (p.His149fs)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
NM_000516.7(GNAS):c.494G>A (p.Arg165His) rs2090976265
NM_000516.7(GNAS):c.499_501del (p.Asn167del) rs2090976492
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.518_521del (p.Asp173fs) rs2146211217
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.585+3G>A
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.699G>A (p.Lys233=)
NM_000516.7(GNAS):c.717C>T (p.Asn239=)
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) rs1555891595
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla) rs577386316
NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del) rs587778382
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.1686C>T (p.Arg562=)
NM_080425.4(GNAS):c.195C>T (p.Gly65=)
NM_080425.4(GNAS):c.657C>T (p.Pro219=) rs752004692
NM_080425.4(GNAS):c.927C>T (p.Phe309=)

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