ClinVar Miner

List of variants in gene GNAS reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.2068+219A>G rs756257959 0.00003
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_000516.7(GNAS):c.1130A>G (p.Asn377Ser) rs764065202 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_016592.5(GNAS):c.689C>T (p.Ser230Phe) rs1455756498 0.00001
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) rs1135401777 0.00001
NM_080425.4(GNAS):c.730C>T (p.Arg244Ter) rs1446835451 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_000516.7(GNAS):c.-18_-16GCC[9] rs745433225
NM_000516.7(GNAS):c.1007G>A (p.Arg336Gln) rs2146300008
NM_000516.7(GNAS):c.101A>C (p.Lys34Thr) rs1944236486
NM_000516.7(GNAS):c.1130A>C (p.Asn377Thr) rs764065202
NM_000516.7(GNAS):c.1165C>T (p.Arg389Cys)
NM_000516.7(GNAS):c.319G>C (p.Val107Leu) rs1057524389
NM_000516.7(GNAS):c.325G>A (p.Ala109Thr) rs2090847079
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.541A>G (p.Lys181Glu)
NM_000516.7(GNAS):c.568T>G (p.Tyr190Asp)
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.580G>A (p.Asp194Asn) rs2146265513
NM_000516.7(GNAS):c.586G>A (p.Asp196Asn)
NM_000516.7(GNAS):c.605T>C (p.Val202Ala)
NM_000516.7(GNAS):c.628A>G (p.Thr210Ala)
NM_000516.7(GNAS):c.647A>T (p.Lys216Ile)
NM_000516.7(GNAS):c.662T>C (p.Met221Thr) rs2146277719
NM_000516.7(GNAS):c.677G>A (p.Gly226Asp) rs2146278333
NM_000516.7(GNAS):c.739G>A (p.Val247Met) rs2146284622
NM_000516.7(GNAS):c.791A>G (p.Asn264Ser) rs2146285468
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_000516.7(GNAS):c.97G>A (p.Asp33Asn)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.998G>A (p.Arg333His) rs1418870137
NM_016592.5(GNAS):c.192_195del (p.Phe64fs)
NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del) rs2145470921
NM_016592.5(GNAS):c.298T>C (p.Cys100Arg)
NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del)
NM_016592.5(GNAS):c.355dup (p.Ile119fs) rs779115304
NM_016592.5(GNAS):c.356T>G (p.Ile119Ser) rs2145471509
NM_016592.5(GNAS):c.367A>G (p.Thr123Ala) rs1131691907
NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)
NM_016592.5(GNAS):c.410C>T (p.Pro137Leu) rs2145471865
NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)
NM_016592.5(GNAS):c.58dup (p.Leu20fs) rs1220130891
NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)
NM_080425.4(GNAS):c.1146C>T (p.Ala382=) rs1448481528
NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu)
NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)
NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu)
NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs)
NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly)
NM_080425.4(GNAS):c.1686C>T (p.Arg562=)
NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys)
NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr)
NM_080425.4(GNAS):c.200C>T (p.Ala67Val)
NM_080425.4(GNAS):c.207A>G (p.Gly69=) rs1281541744
NM_080425.4(GNAS):c.245del (p.Asn82fs)
NM_080425.4(GNAS):c.338G>C (p.Gly113Ala)
NM_080425.4(GNAS):c.780_786del (p.Ser261fs)
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_080425.4(GNAS):c.919C>G (p.Pro307Ala) rs1057524198

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.