ClinVar Miner

List of variants reported as uncertain significance for Newfoundland cone-rod dystrophy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000326.5(RLBP1):c.*334T>C rs886051500
NM_000326.5(RLBP1):c.-104T>G rs886051502
NM_000326.5(RLBP1):c.-182G>C rs886051503
NM_000326.5(RLBP1):c.-233G>A rs886051504
NM_000326.5(RLBP1):c.-234C>T rs779779512
NM_000326.5(RLBP1):c.-72C>T rs886051501
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) rs200143313
NM_000326.5(RLBP1):c.228G>A (p.Ser76=) rs202116993
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) rs143121722
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) rs762121817

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