ClinVar Miner

List of variants reported as likely benign 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: 18
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NM_000326.4(RLBP1):c.*356G>A rs190236976
NM_000326.4(RLBP1):c.*380C>T rs115275013
NM_000326.4(RLBP1):c.-199T>C rs117263224
NM_000326.4(RLBP1):c.-285C>G rs574201786
NM_000326.4(RLBP1):c.-354C>T rs117193134
NM_000326.4(RLBP1):c.141+6G>A rs181321141
NM_000326.4(RLBP1):c.191G>A (p.Arg64Gln) rs201865787
NM_000326.4(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.4(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000326.4(RLBP1):c.306A>C (p.Ala102=) rs143817941
NM_000326.4(RLBP1):c.346+3_346+8delGAGGCC rs56307321
NM_000326.4(RLBP1):c.545T>G (p.Phe182Cys) rs142244640
NM_000326.4(RLBP1):c.647G>A (p.Arg216Gln) rs200488706
NM_000326.4(RLBP1):c.795+15C>T rs181863443
NM_000326.4(RLBP1):c.796-6C>T rs201866933
NM_000326.4(RLBP1):c.796-7C>G rs74029958
NM_000326.4(RLBP1):c.807C>T (p.His269=) rs62640017
NM_000326.4(RLBP1):c.924C>G (p.Pro308=) rs144615495

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