ClinVar Miner

List of variants in gene MMACHC studied for Disorders of Intracellular Cobalamin Metabolism

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Gene type:
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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.*1700A>G rs1044717 0.73398
NM_015506.3(MMACHC):c.*1260G>A rs882803 0.66049
NM_015506.3(MMACHC):c.*1376_*1377insT rs5773883 0.66038
NM_015506.3(MMACHC):c.*969C>G rs11580609 0.43704
NM_015506.3(MMACHC):c.*1585G>C rs7903 0.43401
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_015506.3(MMACHC):c.*1362G>A rs12728919 0.10365
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_015506.3(MMACHC):c.*82A>G rs184787968 0.00421
NM_015506.3(MMACHC):c.*975C>G rs551730972 0.00161
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.*310G>A rs146159774 0.00101
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.*1144A>T rs181611783 0.00088
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.440G>C (p.Gly147Ala) rs140522266 0.00034
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.331C>T (p.Arg111Ter) rs121918242 0.00011
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.482G>A (p.Arg161Gln) rs121918243 0.00007
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_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 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.394C>T (p.Arg132Ter) rs121918241 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.*413G>A rs12021717
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.*853CT[1] rs398052965
NM_015506.3(MMACHC):c.*860del rs886046377
NM_015506.3(MMACHC):c.241C>T (p.Gln81Ter) rs373246922
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.426C>A (p.Asn142Lys) rs189608856
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
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
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783

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