List of variants in gene RNPC3 reported as pathogenic for isolated growth hormone deficiency, type 5

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter)	rs1332137733	0.00004
NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)	rs370930012	0.00003
NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter)	rs918108896	0.00001
NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val)	rs2101050974
NM_017619.4(RNPC3):c.1421del (p.Pro474fs)	rs1461692571
NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe)	rs2101053814
NM_017619.4(RNPC3):c.261dup (p.Leu88fs)	rs2101044148
NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala)	rs2101044774
NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)	rs939646611

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