ClinVar Miner

List of variants in gene RNPC3 studied for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_017619.4(RNPC3):c.359+16A>G rs6702220 0.68079
NM_017619.4(RNPC3):c.342C>T (p.Gly114=) rs6697444 0.64524
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
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)

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