ClinVar Miner

List of variants in gene MAX reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
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.403G>A (p.Asp135Asn) rs201312694 0.00002
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458 0.00002
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.346C>G (p.Pro116Ala) rs1186625283 0.00001
NM_002382.5(MAX):c.349T>G (p.Ser117Ala) rs1483314784 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.41A>G (p.Glu14Gly) rs876660888 0.00001
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253 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
NC_000014.8:g.(?_65543194)_(65544764_?)dup
NC_000014.8:g.(?_65543194)_(65560543_?)dup
NC_000014.8:g.(?_65543194)_(65569057_?)dup
NC_000014.8:g.(?_65568254)_(65569057_?)dup
NC_000014.9:g.(?_65076466)_(65102349_?)dup
NM_002382.5(MAX):c.172-5C>G rs2063106610
NM_002382.5(MAX):c.172G>A (p.Ala58Thr) rs2063106441
NM_002382.5(MAX):c.173C>T (p.Ala58Val) rs2063106341
NM_002382.5(MAX):c.178C>T (p.Arg60Trp) rs2063106124
NM_002382.5(MAX):c.179G>A (p.Arg60Gln) rs2063106020
NM_002382.5(MAX):c.181G>T (p.Ala61Ser)
NM_002382.5(MAX):c.182C>T (p.Ala61Val)
NM_002382.5(MAX):c.191T>C (p.Leu64Pro)
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>C (p.Lys66Asn)
NM_002382.5(MAX):c.208T>C (p.Tyr70His)
NM_002382.5(MAX):c.209A>G (p.Tyr70Cys) rs2139755062
NM_002382.5(MAX):c.218A>G (p.Tyr73Cys) rs2063105092
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
NM_002382.5(MAX):c.230A>G (p.Lys77Arg)
NM_002382.5(MAX):c.235C>T (p.His79Tyr)
NM_002382.5(MAX):c.243C>A (p.His81Gln) rs1242630320
NM_002382.5(MAX):c.244C>G (p.Gln82Glu) rs2063104349
NM_002382.5(MAX):c.246G>C (p.Gln82His) rs2063104208
NM_002382.5(MAX):c.259G>A (p.Asp87Asn) rs758700113
NM_002382.5(MAX):c.265A>G (p.Lys89Glu)
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
NM_002382.5(MAX):c.266A>G (p.Lys89Arg) rs2063103739
NM_002382.5(MAX):c.268C>T (p.Arg90Trp) rs1060500099
NM_002382.5(MAX):c.269G>A (p.Arg90Gln) rs876659562
NM_002382.5(MAX):c.269G>C (p.Arg90Pro)
NM_002382.5(MAX):c.275A>G (p.Asn92Ser)
NM_002382.5(MAX):c.277G>A (p.Ala93Thr) rs1555340540
NM_002382.5(MAX):c.277G>C (p.Ala93Pro) rs1555340540
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.284T>C (p.Leu95Pro) rs878854499
NM_002382.5(MAX):c.285G>A (p.Leu95=) rs878854500
NM_002382.5(MAX):c.295+3G>T
NM_002382.5(MAX):c.296-1G>A rs1555340265
NM_002382.5(MAX):c.301G>A (p.Ala101Thr) rs2063066138
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
NM_002382.5(MAX):c.308A>G (p.Glu103Gly) rs1595127413
NM_002382.5(MAX):c.310A>T (p.Lys104Ter)
NM_002382.5(MAX):c.311A>G (p.Lys104Arg) rs2139741946
NM_002382.5(MAX):c.323G>A (p.Ser108Asn) rs2063065719
NM_002382.5(MAX):c.325G>A (p.Ala109Thr) rs2139741730
NM_002382.5(MAX):c.328C>G (p.Gln110Glu) rs2063065600
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
NM_002382.5(MAX):c.334C>T (p.Gln112Ter)
NM_002382.5(MAX):c.335A>G (p.Gln112Arg) rs1234074950
NM_002382.5(MAX):c.336G>C (p.Gln112His) rs1595127306
NM_002382.5(MAX):c.337A>T (p.Thr113Ser) rs1060500100
NM_002382.5(MAX):c.341A>G (p.Asn114Ser) rs772912674
NM_002382.5(MAX):c.343T>C (p.Tyr115His)
NM_002382.5(MAX):c.346C>T (p.Pro116Ser) rs1186625283
NM_002382.5(MAX):c.350C>T (p.Ser117Phe) rs2139741158
NM_002382.5(MAX):c.353C>G (p.Ser118Ter)
NM_002382.5(MAX):c.353C>T (p.Ser118Leu) rs2063063803
NM_002382.5(MAX):c.355G>A (p.Asp119Asn)
NM_002382.5(MAX):c.356A>G (p.Asp119Gly)
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.37-3_37-2insG
NM_002382.5(MAX):c.373A>T (p.Asn125Tyr)
NM_002382.5(MAX):c.376G>T (p.Ala126Ser) rs779789251
NM_002382.5(MAX):c.380A>G (p.Lys127Arg) rs2063062410
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.385A>T (p.Ser129Cys)
NM_002382.5(MAX):c.387C>A (p.Ser129Arg) rs2063062162
NM_002382.5(MAX):c.388A>G (p.Thr130Ala) rs1566598180
NM_002382.5(MAX):c.38A>G (p.Glu13Gly)
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.406G>C (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.409G>C (p.Gly137Arg) rs17852278
NM_002382.5(MAX):c.410del (p.Gly137fs) rs2139740118
NM_002382.5(MAX):c.413C>T (p.Ser138Leu) rs1176118785
NM_002382.5(MAX):c.416A>T (p.Asp139Val) rs2139739937
NM_002382.5(MAX):c.417C>G (p.Asp139Glu) rs2139739918
NM_002382.5(MAX):c.422G>C (p.Ser141Thr) rs1159227189
NM_002382.5(MAX):c.424T>C (p.Ser142Pro)
NM_002382.5(MAX):c.429G>C (p.Glu143Asp) rs773818427
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
NM_002382.5(MAX):c.436C>T (p.Pro146Ser)
NM_002382.5(MAX):c.439G>A (p.Glu147Lys) rs2063059506
NM_002382.5(MAX):c.442dup (p.Glu148fs) rs1566597938
NM_002382.5(MAX):c.449A>G (p.Gln150Arg)
NM_002382.5(MAX):c.452G>A (p.Ser151Asn) rs2139739378
NM_002382.5(MAX):c.460A>G (p.Lys154Glu)
NM_002382.5(MAX):c.467G>A (p.Arg156Gln) rs876659544
NM_002382.5(MAX):c.46C>A (p.Pro16Thr)
NM_002382.5(MAX):c.46C>G (p.Pro16Ala)
NM_002382.5(MAX):c.473A>G (p.Glu158Gly)
NM_002382.5(MAX):c.478del (p.Ser160fs)
NM_002382.5(MAX):c.47C>T (p.Pro16Leu) rs2063834899
NM_002382.5(MAX):c.49A>G (p.Arg17Gly)
NM_002382.5(MAX):c.50G>A (p.Arg17Lys)
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.58T>C (p.Ser20Pro) rs2063833930
NM_002382.5(MAX):c.59C>A (p.Ser20Tyr)
NM_002382.5(MAX):c.59C>T (p.Ser20Phe)
NM_002382.5(MAX):c.63G>T (p.Ala21=) rs765338814

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