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Variants search result for Homo sapiens
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23 records found for search term Abi2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405702890CV3301080single nucleotide variantNM_001375670.1(ABI2):c.38C>T (p.Pro13Leu)not specified [RCV004425678]uncertain significance2203328552203328552Humanname
401768227CV2723348single nucleotide variantNM_001375670.1(ABI2):c.268A>G (p.Ile90Val)not specified [RCV004329562]uncertain significance2203367027203367027Humanname
405702812CV3301068single nucleotide variantNM_001375670.1(ABI2):c.251G>A (p.Arg84Gln)not specified [RCV004425666]uncertain significance2203367010203367010Humanname
597731392CV3593397single nucleotide variantNM_001375670.1(ABI2):c.112A>T (p.Ile38Leu)not specified [RCV004863127]uncertain significance2203328626203328626Humanname
155966906CV2396126single nucleotide variantNM_001375670.1(ABI2):c.811A>G (p.Ile271Val)not specified [RCV004237657]uncertain significance2203395741203395741Humanname
401770798CV2707421single nucleotide variantNM_001375670.1(ABI2):c.344A>G (p.Asn115Ser)not specified [RCV004312808]uncertain significance2203380266203380266Humanname
401900102CV2780425single nucleotide variantNM_001375670.1(ABI2):c.382G>T (p.Ala128Ser)not specified [RCV004357815]uncertain significance2203380304203380304Humanname
405274467CV3208828single nucleotide variantNM_001375670.1(ABI2):c.421A>G (p.Ile141Val)ABI2-related disorder [RCV003951628]|not specified [RCV004369820]likely benign|uncertain significance2203380343203380343Humanname , trait , alternate_id
405702984CV3301092single nucleotide variantNM_001375670.1(ABI2):c.763C>T (p.Arg255Trp)not specified [RCV004425690]uncertain significance2203395693203395693Humanname
597765077CV3593193single nucleotide variantNM_001375670.1(ABI2):c.671C>T (p.Ser224Leu)not specified [RCV004849941]uncertain significance2203394792203394792Humanname
598204916CV3909602single nucleotide variantNM_001375670.1(ABI2):c.515C>T (p.Pro172Leu)not specified [RCV005269621]uncertain significance2203391080203391080Humanname
598205504CV3909690single nucleotide variantNM_001375670.1(ABI2):c.556A>G (p.Met186Val)not specified [RCV005269709]uncertain significance2203391121203391121Humanname
598206141CV3909784single nucleotide variantNM_001375670.1(ABI2):c.426C>G (p.Asp142Glu)not specified [RCV005269803]uncertain significance2203380348203380348Humanname
156249853CV2215589single nucleotide variantNM_001375670.1(ABI2):c.1600G>A (p.Val534Ile)not specified [RCV004089350]uncertain significance2203427323203427323Humanname
155915960CV2281819single nucleotide variantNM_001375670.1(ABI2):c.1519A>C (p.Ile507Leu)not specified [RCV004136832]uncertain significance2203427242203427242Humanname
156276722CV2351960single nucleotide variantNM_001375670.1(ABI2):c.1255T>A (p.Phe419Ile)not specified [RCV004191065]uncertain significance2203411347203411347Humanname
401870557CV2792436single nucleotide variantNM_001375670.1(ABI2):c.1155T>A (p.Asn385Lys)not specified [RCV004363184]uncertain significance2203402697203402697Humanname
405703044CV3301100single nucleotide variantNM_001375670.1(ABI2):c.1165G>A (p.Gly389Arg)not specified [RCV004425698]uncertain significance2203402707203402707Humanname
597730889CV3593259single nucleotide variantNM_001375670.1(ABI2):c.1219A>G (p.Ile407Val)not specified [RCV004863076]uncertain significance2203411311203411311Humanname
597731197CV3593344single nucleotide variantNM_001375670.1(ABI2):c.1301C>T (p.Pro434Leu)not specified [RCV004863107]uncertain significance2203416929203416929Humanname
598206613CV3905975single nucleotide variantNM_001375670.1(ABI2):c.1158G>C (p.Gln386His)not specified [RCV005269885]uncertain significance2203402700203402700Humanname
598207012CV3906059single nucleotide variantNM_001375670.1(ABI2):c.1532A>G (p.Lys511Arg)not specified [RCV005269969]uncertain significance2203427255203427255Humanname
598219541CV3906144single nucleotide variantNM_001375670.1(ABI2):c.1276A>C (p.Asn426His)not specified [RCV005272127]uncertain significance2203411368203411368Humanname