ClinVar Miner

List of variants in gene MMACHC reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.*82A>G rs184787968 0.00421
NM_015506.3(MMACHC):c.*624T>G rs903318560 0.00155
NM_015506.3(MMACHC):c.*201G>T rs886046371 0.00152
NM_015506.3(MMACHC):c.*467G>A rs551671089 0.00147
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_015506.3(MMACHC):c.*169G>A rs566121791 0.00070
NM_015506.3(MMACHC):c.*450G>C rs34448673 0.00064
NM_015506.3(MMACHC):c.*1743C>T rs148427166 0.00053
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_015506.2(MMACHC):c.-94A>G rs556541742 0.00041
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_015506.3(MMACHC):c.*1305C>A rs79422588 0.00031
NM_015506.2(MMACHC):c.-106G>T rs558959479 0.00023
NM_015506.3(MMACHC):c.*200A>T rs886046370 0.00023
NM_015506.3(MMACHC):c.*962C>T rs181264318 0.00023
NM_015506.3(MMACHC):c.*1212G>A rs377501378 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_015506.3(MMACHC):c.*402T>C rs529318996 0.00015
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_015506.3(MMACHC):c.*1101G>C rs886046379 0.00009
NM_015506.3(MMACHC):c.*799T>C rs577844439 0.00008
NM_015506.3(MMACHC):c.*110A>G rs1011649121 0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_015506.3(MMACHC):c.*818C>T rs540427267 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_015506.3(MMACHC):c.*1241G>A rs920404738 0.00004
NM_015506.3(MMACHC):c.*1361A>G rs554348285 0.00004
NM_015506.3(MMACHC):c.355A>G (p.Thr119Ala) rs778671895 0.00004
NM_015506.3(MMACHC):c.*1542T>C rs1273370389 0.00003
NM_015506.3(MMACHC):c.*1701T>A rs886046384 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015506.2(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.2(MMACHC):c.-148T>C rs368071858 0.00002
NM_015506.3(MMACHC):c.*11T>C rs886046369 0.00002
NM_015506.3(MMACHC):c.*1239G>T rs886046381 0.00002
NM_015506.3(MMACHC):c.*1714A>G rs561153993 0.00002
NM_015506.3(MMACHC):c.*740T>C rs886046376 0.00002
NM_015506.3(MMACHC):c.59G>A (p.Gly20Asp) rs375909359 0.00002
NM_015506.3(MMACHC):c.*1601G>A rs886046382 0.00001
NM_015506.3(MMACHC):c.*1622T>C rs545416828 0.00001
NM_015506.3(MMACHC):c.*707G>A rs1643707321 0.00001
NM_015506.3(MMACHC):c.*730C>T rs374495859 0.00001
NM_015506.3(MMACHC):c.-25G>A rs750522696 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.*1000A>G rs886046378
NM_015506.3(MMACHC):c.*1154CT[1] rs886046380
NM_015506.3(MMACHC):c.*1473G>C rs1643724841
NM_015506.3(MMACHC):c.*1646_*1647del rs886046383
NM_015506.3(MMACHC):c.*185A>T rs150453039
NM_015506.3(MMACHC):c.*201_*202insATTTT rs764756648
NM_015506.3(MMACHC):c.*217_*218insTTTTA rs1553163069
NM_015506.3(MMACHC):c.*259CA[1] rs886046372
NM_015506.3(MMACHC):c.*345C>G rs886046373
NM_015506.3(MMACHC):c.*438C>G rs1643702139
NM_015506.3(MMACHC):c.*538GTT[1] rs886046374
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.*677A>G rs886046375
NM_015506.3(MMACHC):c.*840T>A rs1265457115
NM_015506.3(MMACHC):c.*84G>T rs553866522
NM_015506.3(MMACHC):c.*860del rs886046377
NM_015506.3(MMACHC):c.241C>T (p.Gln81Ter) rs373246922
NM_015506.3(MMACHC):c.426C>A (p.Asn142Lys) rs189608856
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.720A>G (p.Ser240=) rs764969563
NM_015506.3(MMACHC):c.727C>G (p.Pro243Ala) rs757948554
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513

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