ClinVar Miner

List of variants reported as benign for Osteogenesis imperfecta type 10 by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) rs584961 0.91533
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) rs651581 0.40105
NM_001235.5(SERPINH1):c.*125A>G rs9175 0.39341
NM_001235.5(SERPINH1):c.693C>T (p.Thr231=) rs649257 0.36213
NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=) rs585821 0.36110
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35935
NM_001235.5(SERPINH1):c.*525C>A rs6704 0.33025
NM_001235.5(SERPINH1):c.-73G>A rs78251872 0.03006
NM_001235.5(SERPINH1):c.-19C>T rs78910605 0.02974
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.02966
NM_001235.5(SERPINH1):c.*490G>A rs12978 0.02704
NM_001235.5(SERPINH1):c.*580T>G rs145619367 0.00443
NM_001235.3(SERPINH1):c.-189G>A rs185295615 0.00081

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