ClinVar Miner

List of variants in gene B3GLCT reported as likely pathogenic for Peters plus syndrome

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter) rs199908878
NM_194318.4(B3GLCT):c.1184+1G>A rs2137936107
NM_194318.4(B3GLCT):c.161-1G>T
NM_194318.4(B3GLCT):c.578G>A (p.Ser193Asn)
NM_194318.4(B3GLCT):c.71-1G>T
NM_194318.4(B3GLCT):c.851-1G>T

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