List of variants studied for hereditary hyperekplexia by Genome-Nilou Lab

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004211.5(SLC6A5):c.1230A>G (p.Ser410=)	rs7925597	0.99649
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly)	rs1443549	0.99417
NM_000824.5(GLRB):c.831T>C (p.Thr277=)	rs12507409	0.97830
NM_004211.5(SLC6A5):c.1395+30C>T	rs4923548	0.94265
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser)	rs1443548	0.79432
NM_000824.5(GLRB):c.297+10C>T	rs41280501	0.42413
NM_004211.5(SLC6A5):c.304G>A (p.Gly102Ser)	rs1443547	0.36761
NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=)	rs2276433	0.35869
NM_004211.5(SLC6A5):c.1738-39C>A	rs2000959	0.28840
NM_004211.5(SLC6A5):c.1260+49G>A	rs11827415

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