ClinVar Miner

List of variants in gene MAX studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Total variants: 85
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HGVS dbSNP
NC_000014.9:g.(?_65076466)_(65102349_?)dup
NC_000014.9:g.(?_65093698)_(65102349_?)del
NC_000014.9:g.(?_65101536)_(65102349_?)del
NC_000014.9:g.(?_65101546)_(65102544_?)del
NM_002382.5(MAX):c.172G>A (p.Ala58Thr)
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630
NM_002382.5(MAX):c.178C>T (p.Arg60Trp)
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
NM_002382.5(MAX):c.218A>G (p.Tyr73Cys)
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.21C>A (p.Ile7=) rs760248675
NM_002382.5(MAX):c.21C>G (p.Ile7Met) rs760248675
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.236_237AC[5] (p.Gln82fs)
NM_002382.5(MAX):c.244C>G (p.Gln82Glu)
NM_002382.5(MAX):c.246G>C (p.Gln82His)
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213
NM_002382.5(MAX):c.259G>A (p.Asp87Asn) rs758700113
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423
NM_002382.5(MAX):c.268C>T (p.Arg90Trp) rs1060500099
NM_002382.5(MAX):c.277G>C (p.Ala93Pro) rs1555340540
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107
NM_002382.5(MAX):c.280C>A (p.Leu94Ile)
NM_002382.5(MAX):c.280C>G (p.Leu94Val)
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.289C>T (p.Gln97Ter) rs1167538050
NM_002382.5(MAX):c.295+10C>T rs375446224
NM_002382.5(MAX):c.295+2_295+3del
NM_002382.5(MAX):c.295+6C>T rs146552320
NM_002382.5(MAX):c.295+8C>G rs754409025
NM_002382.5(MAX):c.296-1G>A rs1555340265
NM_002382.5(MAX):c.298C>T (p.Arg100Cys) rs762084527
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293
NM_002382.5(MAX):c.301G>A (p.Ala101Thr)
NM_002382.5(MAX):c.308A>G (p.Glu103Gly) rs1595127413
NM_002382.5(MAX):c.314C>T (p.Ala105Val) rs769051095
NM_002382.5(MAX):c.328C>G (p.Gln110Glu)
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138
NM_002382.5(MAX):c.331C>G (p.Leu111Val) rs748675729
NM_002382.5(MAX):c.337A>T (p.Thr113Ser) rs1060500100
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674
NM_002382.5(MAX):c.341A>G (p.Asn114Ser) rs772912674
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
NM_002382.5(MAX):c.346C>G (p.Pro116Ala) rs1186625283
NM_002382.5(MAX):c.349T>G (p.Ser117Ala)
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.353C>T (p.Ser118Leu)
NM_002382.5(MAX):c.359A>G (p.Asn120Ser) rs80206158
NM_002382.5(MAX):c.36+10G>C rs1421908769
NM_002382.5(MAX):c.36+9T>C rs774467253
NM_002382.5(MAX):c.360C>A (p.Asn120Lys) rs1555340209
NM_002382.5(MAX):c.37-4C>T rs747811786
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588
NM_002382.5(MAX):c.376G>A (p.Ala126Thr) rs779789251
NM_002382.5(MAX):c.376G>T (p.Ala126Ser)
NM_002382.5(MAX):c.380A>G (p.Lys127Arg)
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
NM_002382.5(MAX):c.388A>G (p.Thr130Ala) rs1566598180
NM_002382.5(MAX):c.391A>G (p.Ile131Val) rs1595127131
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870
NM_002382.5(MAX):c.403G>A (p.Asp135Asn) rs201312694
NM_002382.5(MAX):c.403G>C (p.Asp135His) rs201312694
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396
NM_002382.5(MAX):c.414G>A (p.Ser138=) rs559090673
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458
NM_002382.5(MAX):c.41A>G (p.Glu14Gly) rs876660888
NM_002382.5(MAX):c.422G>C (p.Ser141Thr)
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299
NM_002382.5(MAX):c.432T>A (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.439G>A (p.Glu147Lys)
NM_002382.5(MAX):c.442dup (p.Glu148fs) rs1566597938
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320
NM_002382.5(MAX):c.466C>T (p.Arg156Trp) rs768360710
NM_002382.5(MAX):c.467G>A (p.Arg156Gln) rs876659544
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308
NM_002382.5(MAX):c.63+8T>C rs776724315
NM_002382.5(MAX):c.6C>T (p.Ser2=) rs138539686

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