ClinVar Miner

List of variants reported as benign for Hereditary sensory and autonomic neuropathy with spastic paraplegia

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.994-130C>T rs2607327 0.97840
NM_012073.5(CCT5):c.*1172G>T rs2578638 0.93037
NM_012073.5(CCT5):c.1498+28del rs147103051 0.91564
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74494
NM_012073.5(CCT5):c.*593A>G rs2578640 0.74295
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_012073.5(CCT5):c.*67A>G rs544 0.73760
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73756
NM_012073.5(CCT5):c.1179+109G>A rs2244717 0.73745
NM_012073.5(CCT5):c.531-98G>A rs2457156 0.73736
NM_012073.5(CCT5):c.331+71T>C rs2607294 0.73691
NM_012073.5(CCT5):c.331+133A>C rs2578616 0.73683
NM_012073.5(CCT5):c.530+100C>T rs2578614 0.73499
NM_012073.5(CCT5):c.*181C>T rs699113 0.73464
NM_012073.5(CCT5):c.1498+36_1498+38del rs370306096 0.73432
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 0.02779
NM_012073.5(CCT5):c.*1377C>G rs11956986 0.02186
NM_012073.5(CCT5):c.332-18C>G rs11741923 0.01936
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 0.00392
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_012073.5(CCT5):c.*1400A>G rs140380065 0.00349
NM_012073.5(CCT5):c.*487C>T rs144767471 0.00330
NM_012073.5(CCT5):c.*670T>A rs114402073 0.00330
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_012073.5(CCT5):c.1350G>A (p.Ala450=) rs142127415 0.00195
NM_012073.5(CCT5):c.874-16G>T rs80019852 0.00129
NM_012073.5(CCT5):c.*513G>C rs72738997
NM_012073.5(CCT5):c.1498+31G>A rs58620077
NM_012073.5(CCT5):c.332-19_332-16del rs376551309

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