ClinVar Miner

List of variants in gene GIPC3 studied for auditory system disorder

Included ClinVar conditions (325):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_133261.3(GIPC3):c.226-22A>G rs8100350 0.35153
NM_133261.3(GIPC3):c.57G>T (p.Ala19=) rs754337950 0.00008
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile) rs761543680 0.00004
NM_133261.3(GIPC3):c.915C>T (p.Gly305=) rs142749099 0.00003
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg) rs946085339 0.00002
NM_133261.3(GIPC3):c.880G>A (p.Asp294Asn) rs779309926 0.00002
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062 0.00001
NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) rs1348505504 0.00001
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) rs904746365 0.00001
NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)
NM_133261.3(GIPC3):c.137G>A (p.Gly46Glu) rs2145268433
NM_133261.3(GIPC3):c.319C>G (p.Arg107Gly) rs138707041
NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro) rs2032370674
NM_133261.3(GIPC3):c.3_594del (p.Met1fs)
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) rs387907002
NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr) rs1320335674
NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu) rs756451615
NM_133261.3(GIPC3):c.685dup (p.Ala229fs) rs748150647
NM_133261.3(GIPC3):c.69G>A (p.Ala23=) rs150473323
NM_133261.3(GIPC3):c.706-3dup rs200925508
NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter) rs1568278651
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp) rs387907001
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg) rs387906999
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter) rs387907000
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln) rs1466835034

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