ClinVar Miner

List of variants in gene COG4 reported as uncertain significance by GeneDx

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.539A>G (p.Lys180Arg) rs138693104 0.00036
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly) rs201323781 0.00030
NM_015386.3(COG4):c.1403G>A (p.Arg468Gln) rs200052272 0.00014
NM_015386.3(COG4):c.2225A>G (p.Asn742Ser) rs200259754 0.00012
NM_015386.3(COG4):c.1927T>C (p.Phe643Leu) rs189821897 0.00011
NM_015386.3(COG4):c.1931A>G (p.Asn644Ser) rs144763147 0.00010
NM_015386.3(COG4):c.2095A>G (p.Thr699Ala) rs760243241 0.00009
NM_015386.3(COG4):c.1128C>A (p.Phe376Leu) rs768897804 0.00003
NM_015386.3(COG4):c.2348A>G (p.Asp783Gly) rs765871294 0.00003
NM_015386.3(COG4):c.2363G>A (p.Arg788His) rs142971847 0.00003
NM_015386.3(COG4):c.536G>A (p.Gly179Asp) rs201628310 0.00003
NM_015386.3(COG4):c.59C>T (p.Pro20Leu) rs781200899 0.00003
NM_015386.3(COG4):c.1072C>A (p.Pro358Thr) rs573621071 0.00002
NM_015386.3(COG4):c.1900G>A (p.Val634Ile) rs772560552 0.00002
NM_015386.3(COG4):c.797G>A (p.Arg266Gln) rs777229476 0.00002
NM_015386.3(COG4):c.14T>C (p.Met5Thr) rs750500740 0.00001
NM_015386.3(COG4):c.1517C>T (p.Pro506Leu) rs940522796 0.00001
NM_015386.3(COG4):c.1795G>A (p.Ala599Thr) rs759705702 0.00001
NM_015386.3(COG4):c.1948G>A (p.Asp650Asn) rs372849778 0.00001
NM_015386.3(COG4):c.317G>A (p.Cys106Tyr) rs1015364245 0.00001
NM_015386.3(COG4):c.383A>G (p.Gln128Arg) rs1336942300 0.00001
NM_015386.3(COG4):c.599A>G (p.Lys200Arg) rs567414816 0.00001
NM_015386.3(COG4):c.61T>C (p.Ser21Pro) rs752722792 0.00001
NM_015386.3(COG4):c.1118A>T (p.Tyr373Phe)
NM_015386.3(COG4):c.145G>C (p.Val49Leu)
NM_015386.3(COG4):c.1468G>A (p.Glu490Lys) rs2049357674
NM_015386.3(COG4):c.1482-3C>G rs1231545072
NM_015386.3(COG4):c.1580G>T (p.Ser527Ile)
NM_015386.3(COG4):c.1636A>T (p.Met546Leu)
NM_015386.3(COG4):c.1647+5G>T
NM_015386.3(COG4):c.172-7_172-6del
NM_015386.3(COG4):c.1948G>C (p.Asp650His) rs372849778
NM_015386.3(COG4):c.200T>G (p.Leu67Arg) rs2151765573
NM_015386.3(COG4):c.2034C>A (p.Ser678Arg) rs1057518545
NM_015386.3(COG4):c.2155C>G (p.Leu719Val)
NM_015386.3(COG4):c.2216C>T (p.Thr739Ile) rs2151736844
NM_015386.3(COG4):c.2356A>G (p.Arg786Gly)
NM_015386.3(COG4):c.266_267inv (p.Gln89Pro)
NM_015386.3(COG4):c.322C>G (p.Leu108Val)
NM_015386.3(COG4):c.500G>A (p.Cys167Tyr)
NM_015386.3(COG4):c.53A>G (p.Gln18Arg) rs2050000641
NM_015386.3(COG4):c.563A>G (p.Asn188Ser)
NM_015386.3(COG4):c.629C>T (p.Ala210Val) rs758428491
NM_015386.3(COG4):c.665T>C (p.Phe222Ser) rs2507536868
NM_015386.3(COG4):c.727C>T (p.Leu243Phe) rs2507536645
NM_015386.3(COG4):c.826C>T (p.Leu276Phe) rs1047747211
NM_015386.3(COG4):c.854G>A (p.Arg285His) rs765111484
NM_015386.3(COG4):c.978C>G (p.Ile326Met) rs2507530519

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