ClinVar Miner

List of variants in gene GDF6 reported as uncertain significance for Klippel-Feil syndrome 1, autosomal dominant

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001001557.4(GDF6):c.*249G>A rs886063206
NM_001001557.4(GDF6):c.*268G>C rs575001243
NM_001001557.4(GDF6):c.*268_*275delinsCTTT rs886063205
NM_001001557.4(GDF6):c.*271_*272insC rs1554571161
NM_001001557.4(GDF6):c.*271_*272insCTC rs1554571161
NM_001001557.4(GDF6):c.*272_*278del rs886063203
NM_001001557.4(GDF6):c.*273_*274CT[20] rs71275339
NM_001001557.4(GDF6):c.*276T>C rs886063204
NM_001001557.4(GDF6):c.*280T>C rs886063202
NM_001001557.4(GDF6):c.*288T>A rs886063201
NM_001001557.4(GDF6):c.*320_*321insCTTT rs886063199
NM_001001557.4(GDF6):c.*321_*322del rs886063198
NM_001001557.4(GDF6):c.*322_*323insTT rs886063197
NM_001001557.4(GDF6):c.*58G>A rs886063207
NM_001001557.4(GDF6):c.*653C>A rs886063196
NM_001001557.4(GDF6):c.*891G>A rs376103537
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) rs774375234
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) rs886063209
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) rs757525366

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