ClinVar Miner

List of variants in gene LOC129930446, MMACHC studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015506.3(MMACHC):c.636G>A (p.Gln212=) rs774357624 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter) rs796051997
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) rs1643682280
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
NM_015506.3(MMACHC):c.619del (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser) rs192924272
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer) rs2149323994
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs) rs1363738186
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala) rs781527733
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
NM_015506.3(MMACHC):c.678A>G (p.Pro226=) rs2149324023
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)

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