ClinVar Miner

List of variants in gene COL5A2 reported by OMIM

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Gene type:
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Total variants: 7
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HGVS dbSNP
NM_000393.4(COL5A2):c.1617+4A>G rs1553515517
NM_000393.4(COL5A2):c.1924-2_1928del rs786205103
NM_000393.4(COL5A2):c.2031+1G>T rs786205104
NM_000393.4(COL5A2):c.2553+2del rs1553514506
NM_000393.4(COL5A2):c.3148-2A>G rs1553513971
NM_000393.4(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.4(COL5A2):c.4298del (p.Ile1433Thrfs) rs1553512393

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