List of variants studied for hereditary sensory and autonomic neuropathy with spastic paraplegia by Genome-Nilou Lab

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_012073.5(CCT5):c.994-130C>T	rs2607327	0.98303
NM_012073.5(CCT5):c.1498+28del	rs147103051	0.91564
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.530+100C>T	rs2578614	0.73499
NM_012073.5(CCT5):c.*67A>G	rs544	0.73487
NM_012073.5(CCT5):c.198A>G (p.Gly66=)	rs2578617	0.73455
NM_012073.5(CCT5):c.1179+109G>A	rs2244717	0.73439
NM_012073.5(CCT5):c.531-98G>A	rs2457156	0.73436
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.-10T>C	rs2578618	0.73426
NM_012073.5(CCT5):c.331+71T>C	rs2607294	0.73392
NM_012073.5(CCT5):c.331+133A>C	rs2578616	0.73340
NM_012073.5(CCT5):c.1498+31G>A	rs58620077

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