ClinVar Miner

List of variants in gene MMAB, MVK studied for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_052845.3(MMAB):c.-180C>T rs66486014 0.00733
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_052845.4(MMAB):c.-4G>C rs372195202 0.00134
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) rs142447736 0.00008
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) rs150895111 0.00007
NM_052845.4(MMAB):c.44G>A (p.Arg15His) rs367711757 0.00005
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) rs533819939 0.00004
NM_052845.4(MMAB):c.52C>A (p.Leu18Met) rs374802787 0.00004
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) rs767706407 0.00002
NM_052845.3(MMAB):c.-69G>A rs886048928 0.00001
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) rs1466525448 0.00001
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn) rs755568905 0.00001
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) rs763383858 0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574 0.00001
NC_000012.11:g.(?_110009444)_(110012715_?)del
NC_000012.11:g.(?_110011228)_(110017709_?)del
NM_052845.4(MMAB):c.-11C>G rs1228106972
NM_052845.4(MMAB):c.-9G>T rs554831769
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
NM_052845.4(MMAB):c.105C>T (p.Arg35=) rs1884735595
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
NM_052845.4(MMAB):c.108C>T (p.Gly36=) rs2136213363
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
NM_052845.4(MMAB):c.116del (p.Gly39fs)
NM_052845.4(MMAB):c.126C>T (p.Asp42=) rs2136213327
NM_052845.4(MMAB):c.132C>T (p.Asp44=) rs747649185
NM_052845.4(MMAB):c.134+10T>G
NM_052845.4(MMAB):c.134+14G>A
NM_052845.4(MMAB):c.134+16del
NM_052845.4(MMAB):c.134+1G>T
NM_052845.4(MMAB):c.134+20G>A
NM_052845.4(MMAB):c.134+2T>A
NM_052845.4(MMAB):c.134+7G>A
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.1A>C (p.Met1Leu) rs1884749143
NM_052845.4(MMAB):c.23del (p.Ser8fs) rs2136213668
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
NM_052845.4(MMAB):c.27T>C (p.Arg9=) rs1311011214
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) rs869320655
NM_052845.4(MMAB):c.30T>C (p.Leu10=) rs757088429
NM_052845.4(MMAB):c.32del (p.Gly11fs)
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys) rs921232728
NM_052845.4(MMAB):c.52C>T (p.Leu18=) rs374802787
NM_052845.4(MMAB):c.54G>A (p.Leu18=) rs1884741296
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.57C>G (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.60G>A (p.Gly20=) rs766597566
NM_052845.4(MMAB):c.60G>T (p.Gly20=) rs766597566
NM_052845.4(MMAB):c.61dup (p.Cys21fs) rs2136213505
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
NM_052845.4(MMAB):c.66C>T (p.Phe22=) rs765869812
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
NM_052845.4(MMAB):c.7G>A (p.Val3Met) rs1884748119
NM_052845.4(MMAB):c.84G>A (p.Leu28=) rs747142605
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) rs2136213423
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)

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