ClinVar Miner

List of variants reported as likely pathogenic by Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 6
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HGVS dbSNP
NM_000192.3(TBX5):c.253C>A (p.Pro85Thr)
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033
NM_001080477.4(TENM3):c.4046C>G (p.Ala1349Gly) rs1243762658
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp) rs755000701
NM_002501.4(NFIX):c.440G>A (p.Gly147Glu) rs1568269273
NM_003361.3(UMOD):c.949T>G (p.Cys317Gly) rs1555487316

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