ClinVar Miner

List of variants in gene MAX studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NC_000014.8:g.(?_65568254)_(65569067_?)del
NC_000014.8:g.(?_65568264)_(65569262_?)del
NM_002382.4(MAX):c.37-15dupT rs747340873
NM_002382.5(MAX):c.*1023C>T rs886050629
NM_002382.5(MAX):c.*1123A>C rs552459072
NM_002382.5(MAX):c.*1127G>C rs4902357
NM_002382.5(MAX):c.*1229C>T rs562514408
NM_002382.5(MAX):c.*1276G>C rs748335228
NM_002382.5(MAX):c.*1278C>T rs541851564
NM_002382.5(MAX):c.*1285T>C rs886050628
NM_002382.5(MAX):c.*1308C>T rs527697025
NM_002382.5(MAX):c.*144C>T rs191382960
NM_002382.5(MAX):c.*170C>T rs762709691
NM_002382.5(MAX):c.*248A>T rs559154342
NM_002382.5(MAX):c.*297C>T rs561525266
NM_002382.5(MAX):c.*320T>G rs750680125
NM_002382.5(MAX):c.*344T>A rs561238353
NM_002382.5(MAX):c.*375G>A rs539220905
NM_002382.5(MAX):c.*404C>T rs4902359
NM_002382.5(MAX):c.*405G>A rs45440292
NM_002382.5(MAX):c.*44G>A rs767990726
NM_002382.5(MAX):c.*461C>T rs183428804
NM_002382.5(MAX):c.*503T>G rs886050633
NM_002382.5(MAX):c.*534G>A rs886050632
NM_002382.5(MAX):c.*565G>A rs1957948
NM_002382.5(MAX):c.*587G>A rs1957949
NM_002382.5(MAX):c.*603C>G rs117802316
NM_002382.5(MAX):c.*608_*609CA[1] rs886050631
NM_002382.5(MAX):c.*717T>C rs4902358
NM_002382.5(MAX):c.*7C>T rs199514174
NM_002382.5(MAX):c.*873T>C rs183467855
NM_002382.5(MAX):c.*92G>A rs45604339
NM_002382.5(MAX):c.*942C>T rs886050630
NM_002382.5(MAX):c.-100T>G rs111941208
NM_002382.5(MAX):c.-110A>T rs886050636
NM_002382.5(MAX):c.-126_-123AGTG[4] rs556734672
NM_002382.5(MAX):c.-126_-123AGTG[6] rs556734672
NM_002382.5(MAX):c.-127G>A rs886050637
NM_002382.5(MAX):c.-152_-151TG[8] rs886050638
NM_002382.5(MAX):c.-18C>T rs201456746
NM_002382.5(MAX):c.-30C>G rs755465193
NM_002382.5(MAX):c.-80G>A rs886050634
NM_002382.5(MAX):c.-94G>C rs536235832
NM_002382.5(MAX):c.-98G>T rs556543602
NM_002382.5(MAX):c.-99G>A rs570017996
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
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.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.284T>C (p.Leu95Pro) rs878854499
NM_002382.5(MAX):c.285G>A (p.Leu95=) rs878854500
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)
NM_002382.5(MAX):c.295+10C>G rs375446224
NM_002382.5(MAX):c.295+10C>T rs375446224
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)
NM_002382.5(MAX):c.308A>G (p.Glu103Gly)
NM_002382.5(MAX):c.314C>T (p.Ala105Val) rs769051095
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.346C>G (p.Pro116Ala)
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
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.375C>T (p.Asn125=) rs370238588
NM_002382.5(MAX):c.376G>A (p.Ala126Thr)
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.397G>A (p.Ala133Thr) rs750459929
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870
NM_002382.5(MAX):c.403G>C (p.Asp135His)
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
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.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.442dup (p.Glu148fs) rs1566597938
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
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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