ClinVar Miner

List of variants in gene LOC126860395, PLAG1 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (870):
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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002655.3(PLAG1):c.439del (p.Ser147fs) rs1114167317
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs) rs2129224609
NM_002655.3(PLAG1):c.478del (p.Glu160fs)
NM_002655.3(PLAG1):c.545A>T (p.Glu182Val)
NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter)
NM_002655.3(PLAG1):c.758dup (p.Phe254fs) rs2129224472

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