ClinVar Miner

List of variants in gene GYG1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp) rs140175164 0.00087
NM_004130.4(GYG1):c.46G>A (p.Ala16Thr) rs200947378 0.00019
NM_004130.4(GYG1):c.601T>G (p.Phe201Val) rs142318183 0.00015
NM_004130.4(GYG1):c.961C>T (p.Arg321Trp) rs138596591 0.00013
NM_004130.4(GYG1):c.883G>C (p.Asp295His) rs202085215 0.00012
NM_004130.4(GYG1):c.610T>C (p.Phe204Leu) rs567161281 0.00009
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro) rs746892694 0.00008
NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr) rs141679018 0.00007
NM_004130.4(GYG1):c.130T>C (p.Ser44Pro) rs527407055 0.00007
NM_004130.4(GYG1):c.895G>A (p.Ala299Thr) rs539132712 0.00007
NM_004130.4(GYG1):c.175A>G (p.Ile59Val) rs535548906 0.00006
NM_004130.4(GYG1):c.700G>A (p.Glu234Lys) rs372805607 0.00006
NM_004130.4(GYG1):c.551C>T (p.Pro184Leu) rs746196371 0.00005
NM_004130.4(GYG1):c.614G>T (p.Gly205Val) rs763516254 0.00005
NM_004130.4(GYG1):c.332T>C (p.Ile111Thr) rs200687148 0.00003
NM_004130.4(GYG1):c.931A>G (p.Met311Val) rs747456955 0.00003
NM_004130.4(GYG1):c.539G>C (p.Arg180Thr) rs370532777 0.00002
NM_004130.4(GYG1):c.171A>T (p.Glu57Asp) rs1477619940 0.00001
NM_004130.4(GYG1):c.251T>C (p.Leu84Pro) rs775590691 0.00001
NM_004130.4(GYG1):c.754A>T (p.Ile252Phe) rs1714526438 0.00001
NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe) rs1211466583 0.00001
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe) rs75284499 0.00001
NM_004130.4(GYG1):c.878A>G (p.Lys293Arg) rs975170441 0.00001
NM_004130.4(GYG1):c.880G>C (p.Glu294Gln) rs748775464 0.00001
NM_004130.4(GYG1):c.971G>A (p.Arg324Gln) rs567555713 0.00001
NM_004130.4(GYG1):c.1007A>G (p.Asp336Gly)
NM_004130.4(GYG1):c.115G>A (p.Ala39Thr) rs200530870
NM_004130.4(GYG1):c.140T>C (p.Met47Thr)
NM_004130.4(GYG1):c.149T>C (p.Val50Ala)
NM_004130.4(GYG1):c.209C>T (p.Ala70Val) rs1712787815
NM_004130.4(GYG1):c.256A>G (p.Lys86Glu) rs988422519
NM_004130.4(GYG1):c.264C>A (p.His88Gln) rs1576537935
NM_004130.4(GYG1):c.394T>C (p.Phe132Leu)
NM_004130.4(GYG1):c.437A>G (p.Tyr146Cys) rs1252919588
NM_004130.4(GYG1):c.457G>C (p.Ala153Pro)
NM_004130.4(GYG1):c.536T>C (p.Ile179Thr)
NM_004130.4(GYG1):c.55G>T (p.Ala19Ser) rs148954947
NM_004130.4(GYG1):c.647G>A (p.Arg216Gln) rs1035133767
NM_004130.4(GYG1):c.668C>A (p.Thr223Asn) rs2472757551
NM_004130.4(GYG1):c.670T>A (p.Tyr224Asn)
NM_004130.4(GYG1):c.698G>T (p.Ser233Ile) rs2472757792
NM_004130.4(GYG1):c.743T>C (p.Leu248Pro)
NM_004130.4(GYG1):c.756C>G (p.Ile252Met) rs374165038
NM_004130.4(GYG1):c.799G>A (p.Val267Ile)
NM_004130.4(GYG1):c.91A>G (p.Thr31Ala)
NM_004130.4(GYG1):c.958G>A (p.Glu320Lys) rs150523225
NM_004130.4(GYG1):c.986A>C (p.Gln329Pro)

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