ClinVar Miner

List of variants in gene EXT1 reported as likely benign for not provided

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1164+220A>G rs56857154 0.01231
NM_000127.3(EXT1):c.1284+127T>C rs17503384 0.00931
NM_000127.3(EXT1):c.1537-201C>G rs149824224 0.00870
NM_000127.3(EXT1):c.963-45T>C rs17503481 0.00411
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000127.3(EXT1):c.1464C>A (p.Thr488=) rs766314797 0.00004
NM_000127.3(EXT1):c.591C>T (p.Ser197=) rs770795716 0.00004
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.*144dup rs71739430
NM_000127.3(EXT1):c.1165-121A>G rs17503398
NM_000127.3(EXT1):c.1503C>T (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1537-149C>G rs17430063
NM_000127.3(EXT1):c.1884-137CAT[6] rs369846524
NM_000127.3(EXT1):c.529A>G (p.Lys177Glu)
NM_000127.3(EXT1):c.962+8_962+11del rs138812713

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