ClinVar Miner

List of variants in gene MMAB reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_052845.4(MMAB):c.*1409G>A rs72650177
NM_052845.4(MMAB):c.*2186T>C rs147647465
NM_052845.4(MMAB):c.*404T>G rs148289390
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
NM_052845.4(MMAB):c.135-4T>C
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.258G>A (p.Val86=)
NM_052845.4(MMAB):c.291-3dup
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.348+10_348+13del
NM_052845.4(MMAB):c.348+7A>G
NM_052845.4(MMAB):c.348+9C>T
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-4C>G
NM_052845.4(MMAB):c.349-8C>G
NM_052845.4(MMAB):c.349-8C>T
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.422-5_422-3del
NM_052845.4(MMAB):c.422-6C>T rs759110803
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.585-4C>G
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.644+8C>T
NM_052845.4(MMAB):c.644+9G>A
NM_052845.4(MMAB):c.645-6C>T
NM_052845.4(MMAB):c.645-8C>G
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574

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