ClinVar Miner

List of variants in gene MAX reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467 0.00019
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299 0.00011
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107 0.00009
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870 0.00002
NM_002382.5(MAX):c.403G>A (p.Asp135Asn) rs201312694 0.00002
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458 0.00002
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650 0.00001
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213 0.00001
NM_002382.5(MAX):c.282T>C (p.Leu94=) rs1413313831 0.00001
NM_002382.5(MAX):c.298C>T (p.Arg100Cys) rs762084527 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_002382.5(MAX):c.314C>T (p.Ala105Val) rs769051095 0.00001
NM_002382.5(MAX):c.331C>G (p.Leu111Val) rs748675729 0.00001
NM_002382.5(MAX):c.332T>G (p.Leu111Arg) rs1477107672 0.00001
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys) rs769555911 0.00001
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588 0.00001
NM_002382.5(MAX):c.376G>A (p.Ala126Thr) rs779789251 0.00001
NM_002382.5(MAX):c.405T>A (p.Asp135Glu) rs1354621995 0.00001
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396 0.00001
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673 0.00001
NM_002382.5(MAX):c.41A>G (p.Glu14Gly) rs876660888 0.00001
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253 0.00001
NM_002382.5(MAX):c.42G>A (p.Glu14=) rs1350578690 0.00001
NM_002382.5(MAX):c.438T>C (p.Pro146=) rs1259526031 0.00001
NM_002382.5(MAX):c.450A>G (p.Gln150=) rs2063058995 0.00001
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320 0.00001
NM_002382.5(MAX):c.466C>T (p.Arg156Trp) rs768360710 0.00001
NM_002382.5(MAX):c.475G>A (p.Ala159Thr) rs779958074 0.00001
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308 0.00001
NM_002382.5(MAX):c.172-2A>G
NM_002382.5(MAX):c.172-4A>G rs370203109
NM_002382.5(MAX):c.173del (p.Ala58fs)
NM_002382.5(MAX):c.182C>T (p.Ala61Val)
NM_002382.5(MAX):c.183C>T (p.Ala61=)
NM_002382.5(MAX):c.194A>G (p.Asp65Gly)
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
NM_002382.5(MAX):c.197A>G (p.Lys66Arg) rs2063105729
NM_002382.5(MAX):c.198A>T (p.Lys66Asn)
NM_002382.5(MAX):c.200C>A (p.Ala67Asp) rs786202340
NM_002382.5(MAX):c.201C>T (p.Ala67=)
NM_002382.5(MAX):c.210T>C (p.Tyr70=)
NM_002382.5(MAX):c.210T>G (p.Tyr70Ter)
NM_002382.5(MAX):c.212T>A (p.Ile71Asn) rs876659610
NM_002382.5(MAX):c.213C>A (p.Ile71=)
NM_002382.5(MAX):c.220A>G (p.Met74Val)
NM_002382.5(MAX):c.221T>C (p.Met74Thr) rs1595131061
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
NM_002382.5(MAX):c.225A>C (p.Arg75=) rs2063104742
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.233dup (p.Asn78fs) rs587781931
NM_002382.5(MAX):c.237C>T (p.His79=)
NM_002382.5(MAX):c.240A>G (p.Thr80=)
NM_002382.5(MAX):c.241C>T (p.His81Tyr)
NM_002382.5(MAX):c.244C>T (p.Gln82Ter)
NM_002382.5(MAX):c.245A>G (p.Gln82Arg)
NM_002382.5(MAX):c.248A>G (p.Gln83Arg)
NM_002382.5(MAX):c.252T>C (p.Asp84=)
NM_002382.5(MAX):c.254T>C (p.Ile85Thr)
NM_002382.5(MAX):c.259G>A (p.Asp87Asn) rs758700113
NM_002382.5(MAX):c.261C>T (p.Asp87=) rs750761201
NM_002382.5(MAX):c.264C>T (p.Leu88=) rs2139753133
NM_002382.5(MAX):c.267G>A (p.Lys89=)
NM_002382.5(MAX):c.268C>A (p.Arg90=) rs1060500099
NM_002382.5(MAX):c.269G>A (p.Arg90Gln) rs876659562
NM_002382.5(MAX):c.269G>T (p.Arg90Leu) rs876659562
NM_002382.5(MAX):c.271C>T (p.Gln91Ter)
NM_002382.5(MAX):c.280C>A (p.Leu94Ile) rs1595130897
NM_002382.5(MAX):c.280C>G (p.Leu94Val) rs1595130897
NM_002382.5(MAX):c.280C>T (p.Leu94Phe)
NM_002382.5(MAX):c.281T>C (p.Leu94Pro)
NM_002382.5(MAX):c.284T>C (p.Leu95Pro) rs878854499
NM_002382.5(MAX):c.290A>C (p.Gln97Pro)
NM_002382.5(MAX):c.295+1G>A rs786203385
NM_002382.5(MAX):c.295+1G>T rs786203385
NM_002382.5(MAX):c.297C>T (p.Val99=)
NM_002382.5(MAX):c.303A>G (p.Ala101=)
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
NM_002382.5(MAX):c.312G>A (p.Lys104=)
NM_002382.5(MAX):c.313G>A (p.Ala105Thr)
NM_002382.5(MAX):c.315G>A (p.Ala105=) rs761220254
NM_002382.5(MAX):c.317G>C (p.Arg106Thr)
NM_002382.5(MAX):c.320C>A (p.Ser107Ter) rs876660073
NM_002382.5(MAX):c.321A>G (p.Ser107=)
NM_002382.5(MAX):c.325G>A (p.Ala109Thr) rs2139741730
NM_002382.5(MAX):c.327C>T (p.Ala109=) rs1595127360
NM_002382.5(MAX):c.328C>G (p.Gln110Glu) rs2063065600
NM_002382.5(MAX):c.330A>C (p.Gln110His)
NM_002382.5(MAX):c.330A>G (p.Gln110=) rs772661746
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
NM_002382.5(MAX):c.333G>A (p.Leu111=) rs2139741549
NM_002382.5(MAX):c.336G>A (p.Gln112=) rs1595127306
NM_002382.5(MAX):c.337A>T (p.Thr113Ser) rs1060500100
NM_002382.5(MAX):c.339C>A (p.Thr113=) rs786203812
NM_002382.5(MAX):c.341A>G (p.Asn114Ser) rs772912674
NM_002382.5(MAX):c.345C>T (p.Tyr115=)
NM_002382.5(MAX):c.346C>T (p.Pro116Ser) rs1186625283
NM_002382.5(MAX):c.348C>G (p.Pro116=)
NM_002382.5(MAX):c.348del (p.Ser117fs)
NM_002382.5(MAX):c.353C>T (p.Ser118Leu) rs2063063803
NM_002382.5(MAX):c.358A>T (p.Asn120Tyr)
NM_002382.5(MAX):c.359A>G (p.Asn120Ser) rs80206158
NM_002382.5(MAX):c.360C>A (p.Asn120Lys) rs1555340209
NM_002382.5(MAX):c.360C>T (p.Asn120=) rs1555340209
NM_002382.5(MAX):c.363C>A (p.Ser121Arg)
NM_002382.5(MAX):c.363C>T (p.Ser121=)
NM_002382.5(MAX):c.365T>A (p.Leu122His)
NM_002382.5(MAX):c.365T>C (p.Leu122Pro)
NM_002382.5(MAX):c.369C>T (p.Tyr123=) rs2063063134
NM_002382.5(MAX):c.37-15dup rs747340873
NM_002382.5(MAX):c.37-4C>T rs747811786
NM_002382.5(MAX):c.372C>G (p.Thr124=)
NM_002382.5(MAX):c.374A>G (p.Asn125Ser)
NM_002382.5(MAX):c.375C>A (p.Asn125Lys)
NM_002382.5(MAX):c.377C>A (p.Ala126Asp)
NM_002382.5(MAX):c.378C>T (p.Ala126=) rs2139740643
NM_002382.5(MAX):c.382G>A (p.Gly128Ser) rs2139740580
NM_002382.5(MAX):c.385A>G (p.Ser129Gly) rs2063062255
NM_002382.5(MAX):c.391A>G (p.Ile131Val) rs1595127131
NM_002382.5(MAX):c.398C>T (p.Ala133Val)
NM_002382.5(MAX):c.403G>C (p.Asp135His) rs201312694
NM_002382.5(MAX):c.405T>C (p.Asp135=) rs1354621995
NM_002382.5(MAX):c.406G>C (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.407G>A (p.Gly136Glu)
NM_002382.5(MAX):c.408G>A (p.Gly136=) rs764320975
NM_002382.5(MAX):c.409G>A (p.Gly137Ser)
NM_002382.5(MAX):c.410G>T (p.Gly137Val)
NM_002382.5(MAX):c.413C>T (p.Ser138Leu) rs1176118785
NM_002382.5(MAX):c.417C>G (p.Asp139Glu) rs2139739918
NM_002382.5(MAX):c.419C>G (p.Ser140Cys)
NM_002382.5(MAX):c.422G>C (p.Ser141Thr) rs1159227189
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
NM_002382.5(MAX):c.432T>C (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.435G>A (p.Glu145=) rs1555340184
NM_002382.5(MAX):c.447C>G (p.Pro149=)
NM_002382.5(MAX):c.453C>A (p.Ser151Arg)
NM_002382.5(MAX):c.454A>G (p.Arg152Gly)
NM_002382.5(MAX):c.456G>A (p.Arg152=) rs546006873
NM_002382.5(MAX):c.466C>G (p.Arg156Gly)
NM_002382.5(MAX):c.467G>A (p.Arg156Gln) rs876659544
NM_002382.5(MAX):c.46C>G (p.Pro16Ala)
NM_002382.5(MAX):c.479G>T (p.Ser160Ile)
NM_002382.5(MAX):c.47C>T (p.Pro16Leu) rs2063834899
NM_002382.5(MAX):c.52T>A (p.Phe18Ile) rs2139963969
NM_002382.5(MAX):c.57A>C (p.Gln19His) rs1395966308
NM_002382.5(MAX):c.60T>G (p.Ser20=)

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