List of variants studied for Grange syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_139119.3(YY1AP1):c.1192C>T (p.Arg398Cys)	rs201580131	0.00028
NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter)	rs1057519599	0.00001
NM_139119.3(YY1AP1):c.412-1G>A	rs199653824	0.00001
NM_139119.3(YY1AP1):c.-151-20_-151-18del	rs752215310
NM_139119.3(YY1AP1):c.-21+1G>T
NM_139119.3(YY1AP1):c.1483_1484dup (p.Ser497fs)
NM_139119.3(YY1AP1):c.1484C>T (p.Pro495Leu)
NM_139119.3(YY1AP1):c.1489_1492del (p.Glu498fs)	rs759089960
NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter)	rs1057519597
NM_139119.3(YY1AP1):c.1987G>T (p.Glu663Ter)	rs1057519598
NM_139119.3(YY1AP1):c.207del (p.Lys69fs)	rs1388180864
NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter)	rs749232831
NM_139119.3(YY1AP1):c.583+23T>G	rs1558307853
NM_139119.3(YY1AP1):c.743del (p.Gly248fs)	rs2149039608

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