ClinVar Miner

List of variants reported as benign for Hereditary sensory and autonomic neuropathy with spastic paraplegia by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.*1172G>T rs2578638 0.93037
NM_012073.5(CCT5):c.*593A>G rs2578640 0.74295
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_012073.5(CCT5):c.*67A>G rs544 0.73487
NM_012073.5(CCT5):c.*181C>T rs699113 0.73464
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.*383A>G rs2662533 0.73426
NM_012073.5(CCT5):c.-10T>C rs2578618 0.73426
NM_012073.5(CCT5):c.*824C>G rs2578639 0.71210
NM_012073.5(CCT5):c.*382C>T rs2578641 0.22645
NM_012073.5(CCT5):c.738G>A (p.Ala246=) rs11557649 0.03346
NM_012073.5(CCT5):c.*856A>C rs72738998 0.02833
NM_012073.5(CCT5):c.*1377C>G rs11956986 0.02353
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_012073.5(CCT5):c.*866A>C rs114441137 0.01043
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) rs113262482 0.00768
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_012073.5(CCT5):c.*320T>C rs186512015 0.00389
NM_012073.5(CCT5):c.*1400A>G rs140380065 0.00377
NM_012073.5(CCT5):c.*670T>A rs114402073 0.00354
NM_012073.5(CCT5):c.*487C>T rs144767471 0.00337
NM_012073.5(CCT5):c.*513G>C rs72738997

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