ClinVar Miner

List of variants reported as benign for intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004963.4(GUCY2C):c.843T>G (p.Phe281Leu) rs1420635 0.98731
NM_004963.4(GUCY2C):c.612-16C>A rs58911033 0.93062
NM_004963.4(GUCY2C):c.1534-30C>G rs7313027 0.91649
NM_004963.4(GUCY2C):c.2022C>T (p.Ile674=) rs10772800 0.83038
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met) rs148946391 0.00085
NM_004963.4(GUCY2C):c.2158-16dup rs3217210
NM_004963.4(GUCY2C):c.612-11del rs56944147

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