ClinVar Miner

List of variants in gene GNAS studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Total variants: 51
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HGVS dbSNP
GNAS, 1-BP DEL, 348C
GNAS, 1-BP DEL, 725C
GNAS, 1-BP DEL, C, EXON 1
GNAS, 1-BP INS, A, EXON 3
GNAS, 12-BP INS, NT1107
GNAS, 2-BP DEL, CT, EXON 4
GNAS, 2-BP DEL, GA, EXON 8
GNAS, 2-BP DEL, TG, EXON 11
GNAS, 3-BP DEL, CAT, EXON 13
GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY
GNAS, 4.7-KB DEL
GNAS, GLN170ALA
GNAS, IVS10DS, G-C, +1
GNAS, IVS3AS, A-G, -12
GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE
GNAS, TYR391TER
GNASAS, 4.7-KB DEL
NM_001077488.4(GNAS):c.1033_1035dup (p.Glu345dup) rs1569031518
NM_001077488.4(GNAS):c.1146_1148CAT[1] (p.Ile384del) rs1569032751
NM_001077488.4(GNAS):c.1166T>G (p.Leu389Arg) rs397514457
NM_001077488.4(GNAS):c.1177G>A (p.Glu393Lys) rs397514456
NM_001077488.4(GNAS):c.1177G>T (p.Glu393Ter) rs397514456
NM_001077488.4(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_001077488.4(GNAS):c.280C>T (p.Gln94Ter)
NM_001077488.4(GNAS):c.299T>C (p.Leu100Pro) rs137854531
NM_001077488.4(GNAS):c.303A>C (p.Lys101Asn) rs1569015549
NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu) rs137854539
NM_001077488.4(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_001077488.4(GNAS):c.435+1G>A rs1555889131
NM_001077488.4(GNAS):c.496C>T (p.Arg166Cys) rs137854532
NM_001077488.4(GNAS):c.568_571del (p.Asp190fs) rs587776829
NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser) rs11554273
NM_001077488.4(GNAS):c.604C>G (p.Arg202Gly) rs11554273
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001077488.4(GNAS):c.682C>A (p.Gln228Lys) rs797045203
NM_001077488.4(GNAS):c.683A>G (p.Gln228Arg) rs121913494
NM_001077488.4(GNAS):c.683A>T (p.Gln228Leu) rs121913494
NM_001077488.4(GNAS):c.684G>T (p.Gln228His) rs137854533
NM_001077488.4(GNAS):c.695G>A (p.Arg232His) rs137854538
NM_001077488.4(GNAS):c.753C>G (p.Ser251Arg) rs137854534
NM_001077488.4(GNAS):c.756C>G (p.Ser252Arg) rs1272546759
NM_001077488.4(GNAS):c.775C>T (p.Arg259Trp) rs137854535
NM_001077488.4(GNAS):c.775_776delinsGC (p.Arg259Ala) rs137854536
NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_001077488.4(GNAS):c.883C>T (p.Gln295Ter) rs863224876
NM_001077490.2(GNAS):c.1235C>T (p.Pro412Leu)
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.3(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_080425.3(GNAS):c.475G>A (p.Glu159Lys) rs1135401777

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