List of variants studied for Seckel syndrome 2

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)	rs17852769	0.18089
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	rs34372414	0.00661
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	rs148713374	0.00072
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	rs369234115	0.00021
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	rs373804633	0.00007
NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	rs146649234	0.00004
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)	rs762396810	0.00003
NM_002894.3(RBBP8):c.1939+20del	rs757282598
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	rs2045882525
NM_002894.3(RBBP8):c.2287+53T>G	rs587776883
NM_002894.3(RBBP8):c.428+37T>C	rs2336916
NM_002894.3(RBBP8):c.428+6T>C
NM_002894.3(RBBP8):c.604+1G>T	rs587780432
NM_002894.3(RBBP8):c.605-48TCA[2]	rs3052770

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