ClinVar Miner

List of variants in gene EXT1 reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.398del (p.Asn133fs)
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036

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