ClinVar Miner

Variants in gene GNAS with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
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.304G>A (p.Ala102Thr) rs2146178601
NM_000516.7(GNAS):c.310G>T (p.Glu104Ter) rs2146178875
NM_000516.7(GNAS):c.317T>C (p.Ile106Thr)
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.445_446del (p.His149fs)
NM_000516.7(GNAS):c.478C>T (p.Arg160Cys)
NM_000516.7(GNAS):c.494G>A (p.Arg165His) rs2090976265
NM_000516.7(GNAS):c.518_521del (p.Asp173fs) rs2146211217
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
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.773G>A (p.Arg258Gln) rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582

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