ClinVar Miner

List of variants reported as uncertain significance for X-linked retinoschisis by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.184+9C>T rs377631416 0.00010
NM_000330.4(RS1):c.521G>A (p.Arg174Gln) rs765547068 0.00003
NM_000330.4(RS1):c.257C>T (p.Pro86Leu) rs761385911 0.00002
NM_000330.4(RS1):c.320G>A (p.Gly107Asp) rs143682861 0.00002
NM_000330.4(RS1):c.572G>A (p.Arg191Gln) rs1402116265 0.00001
NM_000330.4(RS1):c.523-10_523-7del rs746069375

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