ClinVar Miner

List of variants studied for connective tissue neoplasm by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000516.5:c.(?_-424)_(257_?)dup
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs) rs372013175

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