ClinVar Miner

List of variants in gene BAAT reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_001701.4(BAAT):c.951G>A (p.Gln317=) rs61756326 0.00395
NM_001701.4(BAAT):c.409G>A (p.Val137Ile) rs144591246 0.00322
NM_001701.4(BAAT):c.843T>G (p.Ser281=) rs140793591 0.00177
NM_001701.4(BAAT):c.997A>G (p.Ser333Gly) rs139829321 0.00163
NM_001701.4(BAAT):c.685G>A (p.Val229Ile) rs141722672 0.00070
NM_001701.4(BAAT):c.341T>A (p.Val114Glu) rs143561437 0.00054
NM_001701.4(BAAT):c.-6A>T rs181929679 0.00043
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala) rs138613717 0.00038
NM_001701.4(BAAT):c.1173C>T (p.His391=) rs113673597 0.00021
NM_001701.4(BAAT):c.1127C>T (p.Thr376Met) rs138094960 0.00016
NM_001701.4(BAAT):c.1009G>A (p.Ala337Thr) rs200963286 0.00013
NM_001701.4(BAAT):c.223C>T (p.Pro75Ser) rs554475990 0.00009
NM_001701.4(BAAT):c.1008C>T (p.His336=) rs144681311 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_001701.4(BAAT):c.160G>A (p.Glu54Lys) rs755410933 0.00005
NM_001701.4(BAAT):c.762G>A (p.Thr254=) rs760488689 0.00005
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr) rs539433580 0.00005
NM_001701.4(BAAT):c.782A>G (p.Asn261Ser) rs369138634 0.00004
NM_001701.4(BAAT):c.1135G>C (p.Asp379His) rs765307307 0.00003
NM_001701.4(BAAT):c.165C>T (p.Phe55=) rs377631387 0.00003
NM_001701.4(BAAT):c.851T>G (p.Leu284Ter) rs1419255104 0.00003
NM_001701.4(BAAT):c.102A>T (p.Ala34=) rs774722346 0.00002
NM_001701.4(BAAT):c.1120G>A (p.Ala374Thr) rs781653021 0.00002
NM_001701.4(BAAT):c.121G>A (p.Gly41Arg) rs138929107 0.00002
NM_001701.4(BAAT):c.220C>T (p.His74Tyr) rs760592834 0.00002
NM_001701.4(BAAT):c.285T>G (p.Asp95Glu) rs751945479 0.00002
NM_001701.4(BAAT):c.30T>C (p.Ser10=) rs746784051 0.00002
NM_001701.4(BAAT):c.529C>T (p.Arg177Trp) rs200347226 0.00002
NM_001701.4(BAAT):c.551G>A (p.Arg184His) rs778789257 0.00002
NM_001701.4(BAAT):c.903A>T (p.Thr301=) rs767910529 0.00002
NM_001701.4(BAAT):c.227T>C (p.Met76Thr) rs190174945 0.00001
NM_001701.4(BAAT):c.250C>T (p.Pro84Ser) rs369808582 0.00001
NM_001701.4(BAAT):c.25G>A (p.Val9Met) rs552525897 0.00001
NM_001701.4(BAAT):c.1056G>A (p.Trp352Ter) rs751757079
NM_001701.4(BAAT):c.15A>G (p.Thr5=) rs140834712
NM_001701.4(BAAT):c.165C>G (p.Phe55Leu) rs377631387
NM_001701.4(BAAT):c.2T>A (p.Met1Lys) rs794727260
NM_001701.4(BAAT):c.511G>A (p.Gly171Ser) rs886042900
NM_001701.4(BAAT):c.58_59delinsAA (p.Arg20Lys) rs1554695131
NM_001701.4(BAAT):c.602G>A (p.Arg201His) rs41281027
NM_001701.4(BAAT):c.684C>A (p.Gly228=) rs376870227
NM_001701.4(BAAT):c.953G>A (p.Gly318Glu) rs1192662506
NM_001701.4(BAAT):c.992T>C (p.Ile331Thr) rs757742839
NM_001701.4(BAAT):c.9G>A (p.Gln3=) rs149369902

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