ClinVar Miner

List of variants in gene GPBAR1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=) rs111925653 0.00081
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val) rs201017530 0.00078
NM_170699.3(GPBAR1):c.329G>A (p.Arg110His) rs186702546 0.00056
NM_170699.3(GPBAR1):c.814A>G (p.Ser272Gly) rs144467445 0.00038
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met) rs199637113 0.00033
NM_170699.3(GPBAR1):c.90C>G (p.Thr30=) rs200372604 0.00026
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=) rs200360810 0.00019
NM_170699.3(GPBAR1):c.442C>T (p.His148Tyr) rs201881617 0.00016
NM_170699.3(GPBAR1):c.611G>A (p.Arg204Gln) rs201761361 0.00015
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val) rs202032682 0.00014
NM_170699.3(GPBAR1):c.559C>T (p.Arg187Cys) rs200183179 0.00013
NM_170699.3(GPBAR1):c.560G>A (p.Arg187His) rs201063611 0.00013
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=) rs201129128 0.00011
NM_170699.3(GPBAR1):c.718T>G (p.Tyr240Asp) rs202132344 0.00011
NM_170699.3(GPBAR1):c.238C>T (p.Arg80Trp) rs200126718 0.00010
NM_170699.3(GPBAR1):c.934G>A (p.Gly312Ser) rs199838633 0.00010
NM_170699.3(GPBAR1):c.-1G>A rs200558126 0.00009
NM_170699.3(GPBAR1):c.239G>A (p.Arg80Gln) rs201747442 0.00007
NM_170699.3(GPBAR1):c.262G>A (p.Val88Ile) rs181236250 0.00007
NM_170699.3(GPBAR1):c.293C>T (p.Ser98Phe) rs767660471 0.00007
NM_170699.3(GPBAR1):c.427G>A (p.Ala143Thr) rs200722201 0.00006
NM_170699.3(GPBAR1):c.637G>A (p.Ala213Thr) rs201635895 0.00006
NM_170699.3(GPBAR1):c.70C>T (p.Leu24=) rs1242848802 0.00006
NM_170699.3(GPBAR1):c.93G>A (p.Ala31=) rs778821198 0.00006
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His) rs201573186 0.00005
NM_170699.3(GPBAR1):c.321C>T (p.His107=) rs199941566 0.00004
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=) rs202154681 0.00004
NM_170699.3(GPBAR1):c.647G>A (p.Arg216Gln) rs200890305 0.00004
NM_170699.3(GPBAR1):c.658T>C (p.Trp220Arg) rs1182088168 0.00004
NM_170699.3(GPBAR1):c.137G>A (p.Arg46His) rs763662195 0.00003
NM_170699.3(GPBAR1):c.34C>G (p.Pro12Ala) rs747879212 0.00003
NM_170699.3(GPBAR1):c.602G>A (p.Arg201Gln) rs199514423 0.00003
NM_170699.3(GPBAR1):c.699C>T (p.Phe233=) rs200077654 0.00003
NM_170699.3(GPBAR1):c.882C>T (p.Ala294=) rs199517286 0.00003
NM_170699.3(GPBAR1):c.845del (p.Leu282fs) rs775667051 0.00002
NM_170699.3(GPBAR1):c.196C>G (p.Leu66Val) rs754969786 0.00001
NM_170699.3(GPBAR1):c.235C>T (p.Arg79Cys) rs199822804 0.00001
NM_170699.3(GPBAR1):c.324G>A (p.Gly108=) rs201091893 0.00001
NM_170699.3(GPBAR1):c.340G>A (p.Val114Ile) rs1238983352 0.00001
NM_170699.3(GPBAR1):c.373C>T (p.Arg125Trp) rs200257647 0.00001
NM_170699.3(GPBAR1):c.512A>G (p.Tyr171Cys) rs1448077923 0.00001
NM_170699.3(GPBAR1):c.517C>T (p.Leu173Phe) rs201264973 0.00001
NM_170699.3(GPBAR1):c.580C>T (p.Arg194Cys) rs764881762 0.00001
NM_170699.3(GPBAR1):c.584A>C (p.Gln195Pro) rs201565188 0.00001
NM_170699.3(GPBAR1):c.873G>C (p.Trp291Cys) rs190689957 0.00001
NM_170699.3(GPBAR1):c.217_222delinsCA (p.Gly73fs) rs1559489631
NM_170699.3(GPBAR1):c.346A>G (p.Arg116Gly) rs1559489887
NM_170699.3(GPBAR1):c.73G>A (p.Ala25Thr) rs1559489311
NM_170699.3(GPBAR1):c.975C>A (p.Val325=) rs202200326
NM_170699.3(GPBAR1):c.975C>T (p.Val325=) rs202200326

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