ClinVar Miner

List of variants reported as likely pathogenic by Paediatric Orthopaedics Research Lab, Christian Medical College

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002615.7(SERPINF1):c.621_623del (p.Leu208del) rs1597352466
NM_003052.5(SLC34A1):c.156_175delinsA (p.Gly53fs) rs1581634382
NM_021939.4(FKBP10):c.1024dup (p.Thr342fs) rs1597908085
NM_021939.4(FKBP10):c.523_552dup (p.Asp175_Thr184dup) rs1597906442
NM_021939.4(FKBP10):c.918-2A>G rs1597907877
NM_022356.4(P3H1):c.1980dup (p.Val661fs) rs1570453963
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407

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