ClinVar Miner

List of variants reported as uncertain significance for Klippel-Feil syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.*273CT[20] rs71275339
NM_001001557.4(GDF6):c.*320_*321insCTTT rs886063199
NM_001001557.4(GDF6):c.*321_*322del rs886063198
NM_001001557.4(GDF6):c.*322_*323insTT rs886063197

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