ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4471A>T (p.Ile1491Phe) rs863223457 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser) rs1554806972
NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)
NM_000093.5(COL5A1):c.4844_4845del (p.Leu1615fs) rs1554808136
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000093.5(COL5A1):c.5370+3_5370+8delinsC rs1064794972
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004
NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys) rs863223483

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