ClinVar Miner

List of variants reported as pathogenic for Peters plus syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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 0.00006
NM_194318.4(B3GLCT):c.459+1G>A rs767361165 0.00001
NC_000013.10:g.(?_31835063)_(31835239_?)del
NM_194318.4(B3GLCT):c.1015C>T (p.Gln339Ter)
NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs) rs759505367
NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter) rs1875117878
NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) rs267606675
NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) rs1593258510

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