ClinVar Miner

List of variants in gene MAX reported as uncertain significance for benign endocrine neoplasm

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002382.5(MAX):c.*1229C>T rs562514408 0.00066
NM_002382.5(MAX):c.*1308C>T rs527697025 0.00024
NM_002382.5(MAX):c.*1278C>T rs541851564 0.00020
NM_002382.5(MAX):c.*873T>C rs183467855 0.00019
NM_002382.5(MAX):c.*1276G>C rs748335228 0.00013
NM_002382.5(MAX):c.*503T>G rs886050633 0.00013
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_002382.5(MAX):c.*320T>G rs750680125 0.00007
NM_002382.5(MAX):c.*534G>A rs886050632 0.00005
NM_002382.5(MAX):c.*942C>T rs886050630 0.00005
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002382.5(MAX):c.*1285T>C rs886050628 0.00003
NM_002382.5(MAX):c.*169T>C rs567680521 0.00003
NM_002382.5(MAX):c.*943G>A rs111875569 0.00003
NM_002382.5(MAX):c.-127G>A rs886050637 0.00003
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00003
NM_002382.5(MAX):c.*1035C>T rs1357628064 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.415G>A (p.Asp139Asn) rs772397458 0.00002
NM_002382.5(MAX):c.*170C>T rs762709691 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.332T>G (p.Leu111Arg) rs1477107672 0.00001
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys) rs769555911 0.00001
NM_002382.5(MAX):c.357C>A (p.Asp119Glu) rs1175991420 0.00001
NM_002382.5(MAX):c.376G>A (p.Ala126Thr) rs779789251 0.00001
NM_002382.5(MAX):c.403G>A (p.Asp135Asn) rs201312694 0.00001
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396 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.64G>T (p.Ala22Ser) rs1435018573 0.00001
NM_002382.4(MAX):c.-211C>G rs899541680
NM_002382.5(MAX):c.*1023C>T rs886050629
NM_002382.5(MAX):c.*608CA[1] rs886050631
NM_002382.5(MAX):c.*678C>T rs934021031
NM_002382.5(MAX):c.*96C>G rs949792280
NM_002382.5(MAX):c.-152TG[8] rs886050638
NM_002382.5(MAX):c.172-6166A>G
NM_002382.5(MAX):c.172-6254del
NM_002382.5(MAX):c.196A>G (p.Lys66Glu) rs2504199502
NM_002382.5(MAX):c.266A>C (p.Lys89Thr) rs2063103739
NM_002382.5(MAX):c.269G>A (p.Arg90Gln) rs876659562
NM_002382.5(MAX):c.346C>T (p.Pro116Ser) rs1186625283
NM_002382.5(MAX):c.364C>A (p.Leu122Ile) rs2504174760
NM_002382.5(MAX):c.37-15dup rs747340873
NM_002382.5(MAX):c.373A>C (p.Asn125His) rs2063062933
NM_002382.5(MAX):c.406G>C (p.Gly136Arg) rs140490467
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.47C>T (p.Pro16Leu) rs2063834899

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