ClinVar Miner

List of variants in gene GJB4 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_153212.3(GJB4):c.763G>C (p.Ala255Pro) rs199996022 0.00018
NM_153212.3(GJB4):c.304G>A (p.Glu102Lys) rs200953314 0.00009
NM_153212.3(GJB4):c.508C>T (p.Pro170Ser) rs199685128 0.00008
NM_153212.3(GJB4):c.667C>T (p.Arg223Trp) rs200936960 0.00008
NM_153212.3(GJB4):c.178T>G (p.Cys60Gly) rs201860175 0.00007
NM_153212.3(GJB4):c.69C>G (p.Ile23Met) rs142035257 0.00007
NM_153212.3(GJB4):c.293G>A (p.Arg98His) rs748172389 0.00006
NM_153212.3(GJB4):c.431G>T (p.Gly144Val) rs531991614 0.00005
NM_153212.3(GJB4):c.7T>C (p.Trp3Arg) rs201611468 0.00005
NM_153212.3(GJB4):c.479G>A (p.Arg160His) rs539139170 0.00004
NM_153212.3(GJB4):c.314A>G (p.His105Arg) rs756918766 0.00003
NM_153212.3(GJB4):c.680G>A (p.Arg227Gln) rs768318044 0.00003
NM_153212.3(GJB4):c.496G>A (p.Val166Met) rs141637346 0.00002
NM_153212.3(GJB4):c.509C>T (p.Pro170Leu) rs760477640 0.00002
NM_153212.3(GJB4):c.730C>T (p.His244Tyr) rs201000959 0.00002
NM_153212.3(GJB4):c.139G>A (p.Glu47Lys) rs1375118836 0.00001
NM_153212.3(GJB4):c.449A>G (p.His150Arg) rs77021296 0.00001
NM_153212.3(GJB4):c.749C>G (p.Ser250Cys) rs1363451590 0.00001
NM_153212.3(GJB4):c.124G>A (p.Glu42Lys)
NM_153212.3(GJB4):c.155T>C (p.Val52Ala)
NM_153212.3(GJB4):c.219C>G (p.His73Gln)
NM_153212.3(GJB4):c.223C>A (p.Arg75Ser) rs143967235
NM_153212.3(GJB4):c.308G>A (p.Arg103His)
NM_153212.3(GJB4):c.308G>C (p.Arg103Pro)
NM_153212.3(GJB4):c.341C>T (p.Pro114Leu)
NM_153212.3(GJB4):c.418G>A (p.Ala140Thr)
NM_153212.3(GJB4):c.484G>A (p.Val162Met) rs2521888124
NM_153212.3(GJB4):c.511C>T (p.His171Tyr)
NM_153212.3(GJB4):c.538C>T (p.Pro180Ser)
NM_153212.3(GJB4):c.552G>T (p.Lys184Asn) rs1394691946
NM_153212.3(GJB4):c.586A>G (p.Ile196Val) rs1265807493
NM_153212.3(GJB4):c.62G>A (p.Ser21Asn) rs1248057091
NM_153212.3(GJB4):c.641T>G (p.Met214Arg)
NM_153212.3(GJB4):c.656C>A (p.Pro219His)
NM_153212.3(GJB4):c.694G>A (p.Asp232Asn)
NM_153212.3(GJB4):c.770C>T (p.Ser257Leu) rs148656277
NM_153212.3(GJB4):c.89T>C (p.Ile30Thr) rs994588701
NM_153212.3(GJB4):c.95G>C (p.Arg32Pro)

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