ClinVar Miner

List of variants studied for Newfoundland cone-rod dystrophy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000326.4(RLBP1):c.-285C>G rs574201786
NM_000326.4(RLBP1):c.-354C>T rs117193134
NM_000326.5(RLBP1):c.*167T>G rs834
NM_000326.5(RLBP1):c.*242A>C rs8025719
NM_000326.5(RLBP1):c.*296G>A rs2710
NM_000326.5(RLBP1):c.*322C>T rs8039787
NM_000326.5(RLBP1):c.*334T>C rs886051500
NM_000326.5(RLBP1):c.*356G>A rs190236976
NM_000326.5(RLBP1):c.*380C>T rs115275013
NM_000326.5(RLBP1):c.-104T>G rs886051502
NM_000326.5(RLBP1):c.-182G>C rs886051503
NM_000326.5(RLBP1):c.-199T>C rs117263224
NM_000326.5(RLBP1):c.-233G>A rs886051504
NM_000326.5(RLBP1):c.-234C>T rs779779512
NM_000326.5(RLBP1):c.-70G>A rs3743384
NM_000326.5(RLBP1):c.-72C>T rs886051501
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) rs200143313
NM_000326.5(RLBP1):c.141+6G>A rs181321141
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) rs201865787
NM_000326.5(RLBP1):c.228G>A (p.Ser76=) rs202116993
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) rs143121722
NM_000326.5(RLBP1):c.306A>C (p.Ala102=) rs143817941
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) rs762121817
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln) rs200488706
NM_000326.5(RLBP1):c.795+15C>T rs181863443
NM_000326.5(RLBP1):c.796-6C>T rs201866933
NM_000326.5(RLBP1):c.796-7C>G rs74029958
NM_000326.5(RLBP1):c.807C>T (p.His269=) rs62640017
NM_000326.5(RLBP1):c.924C>G (p.Pro308=) rs144615495
RLBP1, 324G-A
RLBP1, IVS3, T-C, +2

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