ClinVar Miner

List of variants reported as benign for combined malonic and methylmalonic acidemia

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122 0.91794
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200 0.72412
NM_001243279.3(ACSF3):c.-20-129C>T rs7195892 0.72305
NM_001243279.3(ACSF3):c.-20-4C>G rs57558972 0.72289
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528 0.72028
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527 0.72026
NM_001243279.3(ACSF3):c.667-77G>C rs4782458 0.72002
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255 0.71937
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529 0.71928
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_001243279.3(ACSF3):c.822+38C>G rs4782456 0.71783
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) rs3743979 0.71214
NM_001243279.3(ACSF3):c.822+145T>C rs4782455 0.71040
NM_001243279.3(ACSF3):c.667-31T>C rs4782457 0.71038
NM_001243279.3(ACSF3):c.667-101T>C rs7200676 0.71025
NM_001243279.3(ACSF3):c.666+37C>T rs8060043 0.70606
NM_001243279.3(ACSF3):c.1239+57G>C rs3743983 0.70590
NM_001243279.3(ACSF3):c.822+53_822+54del rs10578141 0.69831
NM_001243279.3(ACSF3):c.666+199T>C rs7194257 0.67347
NM_001243279.3(ACSF3):c.1126+40G>T rs3743980 0.65690
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) rs12447947 0.24857
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019 0.03850
NM_001243279.3(ACSF3):c.667-12C>T rs72817437 0.03381
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425 0.02493
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977 0.02239
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357 0.01079
NM_001243279.3(ACSF3):c.667-13T>C rs139367843 0.00923
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00901
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029 0.00878
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284 0.00391
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268 0.00369
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741 0.00346
NM_001243279.3(ACSF3):c.823-26T>C rs9921293 0.00317
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284 0.00242
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791 0.00242
NM_001243279.3(ACSF3):c.822+18C>T rs370191947 0.00132
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539 0.00083
NM_001243279.3(ACSF3):c.1614-12T>C rs373509783 0.00079
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00061
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688 0.00014
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
NM_001243279.3(ACSF3):c.823-6T>C rs76096111 0.00010
NM_001243279.3(ACSF3):c.666+20G>A rs557738566 0.00001
NM_001243279.3(ACSF3):c.1239+1351C>A
NM_001243279.3(ACSF3):c.1502-11_1502-9del rs147884845
NM_001243279.3(ACSF3):c.1502-146A>G rs4302032
NM_001243279.3(ACSF3):c.1613+16del
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.666+195G>A rs6500530
NM_001243279.3(ACSF3):c.978-83C>G rs9940965

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