ClinVar Miner

List of variants in gene GNAS studied for Pseudopseudohypoparathyroidism

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Total variants: 21
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HGVS dbSNP
GNAS, 1-BP DEL, C, EXON 1
GNAS, 2-BP DEL, CT, EXON 4
GNAS, 2-BP DEL, GA, EXON 8
GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY
GNAS, GLN170ALA
NM_000516.7(GNAS):c.257+197_531-8del
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala)
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del)
NM_001077490.3(GNAS):c.1235C>T (p.Pro412Leu) rs532475771
NM_016592.5(GNAS):c.*42+12917C>T
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu)

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