List of variants studied for coloboma of optic nerve

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)	rs1424699115	0.00001
46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dn
NM_001368894.2(PAX6):c.20_21del (p.Ter437=)	rs759391101
NM_001368894.2(PAX6):c.*21dup (p.Ter437=)	rs759391101
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)	rs1230504203
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)	rs1949622831
NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys)	rs755181141
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)	rs757946805
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	rs121907922
NM_001368894.2(PAX6):c.244C>T (p.Pro82Ser)	rs121907923
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)	rs747077748
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	rs886041222

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