List of variants in gene GDF6 reported as benign for Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001001557.4(GDF6):c.936G>C (p.Ser312=)	rs148861809	0.02643
NM_001001557.4(GDF6):c.852C>G (p.Ser284=)	rs74498875	0.00603
NM_001001557.4(GDF6):c.255G>T (p.Pro85=)	rs112296824	0.00366
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	rs121909352	0.00198
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg)	rs140579014	0.00061
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys)	rs148321868	0.00022
NM_001001557.4(GDF6):c.407-20A>C	rs536565151	0.00019
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)	rs140782427	0.00015
NM_001001557.4(GDF6):c.921G>C (p.Ala307=)	rs545149100	0.00008
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)	rs561421783	0.00007
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)	rs368498747	0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly)	rs768532556	0.00006
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro)	rs749337343	0.00004
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu)	rs748092776	0.00003
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)	rs1201519354	0.00003
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)	rs888138096	0.00002
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val)	rs988646683	0.00001
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)	rs1422809057	0.00001
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)	rs1444302456	0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys)	rs780167779	0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp)	rs1401531865	0.00001
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His)	rs764936321
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)	rs1404630168
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala)	rs121909354
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)	rs543473222
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)	rs753416812
NM_001001557.4(GDF6):c.407-10dup	rs1280924140
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser)	rs933957352
NM_001001557.4(GDF6):c.980C>A (p.Pro327His)	rs121909356
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu)	rs1812445302

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