ClinVar Miner

List of variants in gene GDF6 studied for Leber congenital amaurosis

Included ClinVar conditions (41):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro)
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser)
NM_001001557.4(GDF6):c.24C>G (p.Leu8=)
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824
NM_001001557.4(GDF6):c.27G>A (p.Ser9=)
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)
NM_001001557.4(GDF6):c.460A>G (p.Met154Val)
NM_001001557.4(GDF6):c.483G>T (p.Leu161=)
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu)
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) rs1401531865
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809
NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del) rs141468446

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