ClinVar Miner

List of variants in gene EXT1 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) rs886042484 0.00004
NM_000127.3(EXT1):c.113A>G (p.Glu38Gly) rs794726874 0.00003
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.1138A>T (p.Ile380Leu) rs747020325
NM_000127.3(EXT1):c.808_810del (p.Arg270del) rs794726875

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