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

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Total variants: 21

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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.2008G>A (p.Ala670Thr)	rs587784572	0.00004
NM_004963.4(GUCY2C):c.202C>T (p.Arg68Cys)	rs750915945	0.00003
NM_004963.4(GUCY2C):c.1540A>G (p.Ile514Val)	rs551796026	0.00001
NM_004963.4(GUCY2C):c.2758C>T (p.Arg920Cys)	rs149347801	0.00001
NM_004963.4(GUCY2C):c.1047del (p.Lys350fs)	rs1451730099
NM_004963.4(GUCY2C):c.1160A>G (p.Asp387Gly)	rs587776905
NM_004963.4(GUCY2C):c.1798G>A (p.Gly600Arg)	rs777943137
NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys)	rs562942379
NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln)	rs895214647
NM_004963.4(GUCY2C):c.2158-16dup	rs3217210
NM_004963.4(GUCY2C):c.2270dup (p.Asn757fs)	rs730880325
NM_004963.4(GUCY2C):c.2782T>C (p.Cys928Arg)	rs587784573
NM_004963.4(GUCY2C):c.3049G>A (p.Glu1017Lys)
NM_004963.4(GUCY2C):c.612-11del	rs56944147
NM_004963.4(GUCY2C):c.784C>T (p.Arg262Ter)
NM_004963.4(GUCY2C):c.949-5T>G	rs1403237949

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