ClinVar Miner

List of variants in gene BRAT1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_152743.4(BRAT1):c.1972G>A (p.Ala658Thr) rs186448943 0.00030
NM_152743.4(BRAT1):c.1135-5C>T rs374463976 0.00029
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg) rs142129866 0.00028
NM_152743.4(BRAT1):c.1087G>A (p.Gly363Ser) rs967919052 0.00016
NM_152743.4(BRAT1):c.1318A>T (p.Thr440Ser) rs141751133 0.00015
NM_152743.4(BRAT1):c.2105A>G (p.Asp702Gly) rs775219690 0.00013
NM_152743.4(BRAT1):c.626C>T (p.Ala209Val) rs112960104 0.00013
NM_152743.4(BRAT1):c.2009G>A (p.Arg670His) rs147119058 0.00011
NM_152743.4(BRAT1):c.1451C>G (p.Thr484Ser) rs200248064 0.00010
NM_152743.4(BRAT1):c.1656G>C (p.Gln552His) rs376177219 0.00009
NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly) rs773571503 0.00009
NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met) rs368808380 0.00008
NM_152743.4(BRAT1):c.1304C>T (p.Thr435Met) rs745563920 0.00007
NM_152743.4(BRAT1):c.1498+6G>A rs758246723 0.00006
NM_152743.4(BRAT1):c.1879G>A (p.Ala627Thr) rs750400556 0.00006
NM_152743.4(BRAT1):c.1177G>A (p.Ala393Thr) rs35659709 0.00005
NM_152743.4(BRAT1):c.578C>T (p.Ala193Val) rs144841598 0.00005
NM_152743.4(BRAT1):c.1297C>G (p.Leu433Val) rs147978414 0.00004
NM_152743.4(BRAT1):c.1618G>A (p.Ala540Thr) rs148608404 0.00004
NM_152743.4(BRAT1):c.2270C>T (p.Ala757Val) rs369064014 0.00004
NM_152743.4(BRAT1):c.1804G>A (p.Val602Ile) rs532881368 0.00003
NM_152743.4(BRAT1):c.2258C>T (p.Pro753Leu) rs199914857 0.00003
NM_152743.4(BRAT1):c.2383G>A (p.Val795Met) rs766445982 0.00003
NM_152743.4(BRAT1):c.319G>A (p.Gly107Arg) rs749992319 0.00003
NM_152743.4(BRAT1):c.1522C>T (p.Arg508Cys) rs751548415 0.00002
NM_152743.4(BRAT1):c.355G>A (p.Val119Met) rs756690295 0.00002
NM_152743.4(BRAT1):c.1555T>C (p.Ser519Pro) rs1300644959 0.00001
NM_152743.4(BRAT1):c.2377G>A (p.Asp793Asn) rs759036645 0.00001
NM_152743.4(BRAT1):c.2389A>G (p.Lys797Glu) rs773514268 0.00001
NM_152743.4(BRAT1):c.575C>T (p.Pro192Leu) rs772270013 0.00001
NM_152743.4(BRAT1):c.639G>C (p.Lys213Asn) rs771033486 0.00001
NM_152743.4(BRAT1):c.676G>A (p.Gly226Arg) rs757941515 0.00001
NM_152743.4(BRAT1):c.1025A>T (p.Asp342Val) rs1554295023
NM_152743.4(BRAT1):c.1166C>G (p.Ser389Cys)
NM_152743.4(BRAT1):c.1211C>T (p.Ser404Leu)
NM_152743.4(BRAT1):c.1267G>A (p.Val423Ile) rs141807337
NM_152743.4(BRAT1):c.1351G>T (p.Ala451Ser) rs138276986
NM_152743.4(BRAT1):c.1423C>T (p.Leu475Phe)
NM_152743.4(BRAT1):c.1457G>A (p.Gly486Asp)
NM_152743.4(BRAT1):c.1465G>A (p.Asp489Asn)
NM_152743.4(BRAT1):c.1555T>A (p.Ser519Thr)
NM_152743.4(BRAT1):c.1721G>C (p.Ser574Thr)
NM_152743.4(BRAT1):c.2255T>G (p.Leu752Arg)
NM_152743.4(BRAT1):c.2291dup (p.Gly765fs) rs1463777746
NM_152743.4(BRAT1):c.2298C>A (p.Asp766Glu) rs144085416
NM_152743.4(BRAT1):c.2304G>T (p.Glu768Asp)
NM_152743.4(BRAT1):c.236T>C (p.Leu79Pro) rs771024050
NM_152743.4(BRAT1):c.2441A>G (p.Gln814Arg)
NM_152743.4(BRAT1):c.29C>T (p.Pro10Leu)
NM_152743.4(BRAT1):c.301G>C (p.Gly101Arg)
NM_152743.4(BRAT1):c.53A>G (p.Asp18Gly)
NM_152743.4(BRAT1):c.604G>T (p.Val202Phe)
NM_152743.4(BRAT1):c.626C>G (p.Ala209Gly)
NM_152743.4(BRAT1):c.629C>A (p.Ala210Asp)
NM_152743.4(BRAT1):c.92A>G (p.Lys31Arg)

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