ClinVar Miner

List of variants in gene ACBD5 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_145698.5(ACBD5):c.829+55G>A rs1775355 0.99332
NM_145698.5(ACBD5):c.491-51A>G rs788213 0.99325
NM_145698.5(ACBD5):c.491-330C>G rs788214 0.95329
NM_145698.5(ACBD5):c.625+283A>G rs7902034 0.78187
NM_145698.5(ACBD5):c.181+200C>G rs944909 0.78064
NM_145698.5(ACBD5):c.302+300A>G rs2800391 0.78058
NM_145698.5(ACBD5):c.830-294A>G rs4749239 0.77468
NM_145698.5(ACBD5):c.1566-298C>T rs10764688 0.67914
NM_145698.5(ACBD5):c.182-339A>G rs2780667 0.61785
NM_001042473.4(ACBD5):c.-90-503C>T rs1328602 0.61762
NM_145698.5(ACBD5):c.1404+101G>A rs7919523 0.52084
NM_145698.5(ACBD5):c.519A>G (p.Pro173=) rs10764690 0.39597
NM_145698.5(ACBD5):c.625+263T>C rs788212 0.17142
NM_145698.5(ACBD5):c.302+54C>T rs534226 0.17099
NM_145698.5(ACBD5):c.490+153A>G rs7096132 0.10497
NM_145698.5(ACBD5):c.1565+165T>C rs7910237 0.10436
NM_145698.5(ACBD5):c.302+211C>T rs143084262 0.08513
NM_145698.5(ACBD5):c.376-172G>A rs7900533 0.07278
NM_145698.5(ACBD5):c.491-75T>C rs12571272 0.07269
NM_145698.5(ACBD5):c.830-256C>T rs57096075 0.07183
NM_145698.5(ACBD5):c.1205-168C>T rs12246088 0.07103
NM_145698.5(ACBD5):c.777C>T (p.Pro259=) rs34037342 0.07092
NM_145698.5(ACBD5):c.830-89A>G rs113116117 0.07092
NM_145698.5(ACBD5):c.626-7G>A rs74126939 0.07090
NM_145698.5(ACBD5):c.1143A>G (p.Ala381=) rs34856168 0.07089
NM_145698.5(ACBD5):c.1176C>T (p.Asp392=) rs34613194 0.07087
NM_145698.5(ACBD5):c.1205-254C>T rs12246158 0.07086
NM_145698.5(ACBD5):c.626-168G>A rs7085266 0.07086
NM_145698.5(ACBD5):c.936+204dup rs141040702 0.07085
NM_145698.5(ACBD5):c.936+129A>G rs10466100 0.07082
NM_145698.5(ACBD5):c.626-188A>G rs7072412 0.07078
NM_145698.5(ACBD5):c.829+136A>G rs59638069 0.07076
NM_145698.5(ACBD5):c.626-30T>C rs7068463 0.07072
NM_145698.5(ACBD5):c.830-166G>A rs59116633 0.07067
NM_145698.5(ACBD5):c.1456-214A>C rs10829209 0.07027
NM_145698.5(ACBD5):c.490+253A>G rs16927646 0.07010
NM_145698.5(ACBD5):c.625+31G>A rs12243607 0.07008
NM_145698.5(ACBD5):c.625+52T>C rs12251316 0.07008
NM_145698.5(ACBD5):c.625+292C>T rs12257786 0.07006
NM_145698.5(ACBD5):c.376-59T>C rs12259499 0.06984
NM_145698.5(ACBD5):c.376-336A>G rs12262674 0.06981
NM_145698.5(ACBD5):c.1204+34T>C rs76818131 0.06300
NM_145698.5(ACBD5):c.1205-111C>T rs7919198 0.06049
NM_145698.5(ACBD5):c.1388C>T (p.Thr463Met) rs7918793 0.06044
NM_145698.5(ACBD5):c.302+291C>T rs59947739 0.05514
NM_145698.5(ACBD5):c.1566-187G>C rs16927620 0.04540
NM_145698.5(ACBD5):c.182-291G>C rs76014873 0.04177
NM_001042473.4(ACBD5):c.-90-438G>T rs12571873 0.03988
NM_145698.5(ACBD5):c.1565+208T>C rs78148492 0.01044
NM_145698.5(ACBD5):c.1456-170C>T rs12570662 0.01041
NM_145698.5(ACBD5):c.531C>T (p.Thr177=) rs12572325 0.01018
NM_145698.5(ACBD5):c.376-40del rs34648359 0.01011
NM_145698.5(ACBD5):c.968C>A (p.Pro323Gln) rs41314978 0.00405
NM_145698.5(ACBD5):c.1227C>T (p.Ser409=) rs140366816 0.00064
NM_145698.5(ACBD5):c.568G>A (p.Glu190Lys) rs187831118 0.00026
NM_145698.5(ACBD5):c.422G>A (p.Arg141His) rs77955449 0.00015
NM_145698.5(ACBD5):c.6C>T (p.Leu2=) rs145435469 0.00007
NM_145698.5(ACBD5):c.*80dup rs11420737
NM_145698.5(ACBD5):c.1204+70G>T rs117615378
NM_145698.5(ACBD5):c.1404+222C>G rs6482604
NM_145698.5(ACBD5):c.1455+20del
NM_145698.5(ACBD5):c.1456-303C>T rs788205
NM_145698.5(ACBD5):c.15+54G>T rs2797078
NM_145698.5(ACBD5):c.1566-16del rs2059470037
NM_145698.5(ACBD5):c.1566-297G>A rs788232
NM_145698.5(ACBD5):c.302+10dup rs760218719
NM_145698.5(ACBD5):c.302+147GTTT[2] rs71523565
NM_145698.5(ACBD5):c.375+299C>T rs12242335
NM_145698.5(ACBD5):c.376-177A>C rs12261094
NM_145698.5(ACBD5):c.376-214dup rs57929913
NM_145698.5(ACBD5):c.376-68del rs59068315
NM_145698.5(ACBD5):c.830-111A>G rs4749238
NM_145698.5(ACBD5):c.936+7del
NM_145698.5(ACBD5):c.937-16_937-13dup rs149989450
NM_145698.5(ACBD5):c.937-325G>A rs11015608

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