ClinVar Miner

List of variants in gene GNAS reported by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs) rs1178804802 0.00001
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg) rs2145566990

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