ClinVar Miner

List of variants studied for intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency by Suma Genomics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004963.4(GUCY2C):c.202C>T (p.Arg68Cys) rs750915945 0.00003
NM_004963.4(GUCY2C):c.1798G>A (p.Gly600Arg) rs777943137
NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys) rs562942379

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