ClinVar Miner

List of variants studied for Peters plus syndrome by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_194318.4(B3GLCT):c.347+5G>A rs80338850 0.00003
NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter) rs80338852

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