List of variants studied for Duane syndrome type 1

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)	rs121912838	0.00002
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	rs1356639316	0.00001
NM_001822.7(CHN1):c.687_691del	rs886055152	0.00001
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)	rs552090021	0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	rs771409809	0.00001
46;XY;t(16;20)(q11.2;q13.2)dn
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
NM_001822.7(CHN1):c.*214dup	rs574270883
NM_001822.7(CHN1):c.734_737del	rs66480716
NM_001822.7(CHN1):c.628-14dup	rs375494218
NM_001822.7(CHN1):c.628-15_628-14del	rs547068631
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	rs1558939623
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
NM_005246.4(FER):c.1887A>C (p.Gln629His)
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
NM_005461.5(MAFB):c.440del (p.Gly147fs)	rs879255276
NM_005461.5(MAFB):c.644del (p.Gln215fs)	rs879255277
NM_005461.5(MAFB):c.803del (p.Asn268fs)	rs879255275
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys)	rs1554534086
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_181552.4(CUX1):c.691A>G (p.Met231Val)

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