List of variants in gene GUCY2D reported as pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)	rs1555635778	0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)	rs201587670	0.00001
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)	rs1598146173
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	rs61749679
NM_000180.4(GUCY2D):c.1957-2A>G	rs945734402
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)	rs1424348888
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)	rs61750172

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