ClinVar Miner

List of variants in gene RAB18 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_021252.5(RAB18):c.*3803_*3804insT rs3832657 0.79694
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_021252.5(RAB18):c.260-43_260-42del rs72201756

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