ClinVar Miner

List of variants studied for Newfoundland cone-rod dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000326.5(RLBP1):c.*167T>G rs834 0.89555
NM_000326.5(RLBP1):c.*296G>A rs2710 0.39999
NM_000326.5(RLBP1):c.*322C>T rs8039787 0.04087
NM_000326.5(RLBP1):c.*242A>C rs8025719 0.02630
NM_000326.5(RLBP1):c.-70G>A rs3743384 0.02517
NM_000326.5(RLBP1):c.529T>C (p.Leu177=) rs78719794 0.01311
NM_000326.5(RLBP1):c.*380C>T rs115275013 0.01130
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_000326.5(RLBP1):c.807C>T (p.His269=) rs62640017 0.00638
NM_000326.5(RLBP1):c.796-7C>G rs74029958 0.00409
NM_000326.5(RLBP1):c.*356G>A rs190236976 0.00366
NM_000326.5(RLBP1):c.*217A>C rs150636501 0.00319
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282 0.00272
NM_000326.5(RLBP1):c.-199T>C rs117263224 0.00239
NM_000326.5(RLBP1):c.924C>G (p.Pro308=) rs144615495 0.00153
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_000326.4(RLBP1):c.-354C>T rs117193134 0.00123
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640 0.00084
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383 0.00082
NM_000326.5(RLBP1):c.306A>C (p.Ala102=) rs143817941 0.00049
NM_000326.5(RLBP1):c.795+15C>T rs181863443 0.00041
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) rs201865787 0.00038
NM_000326.5(RLBP1):c.796-6C>T rs201866933 0.00022
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln) rs200488706 0.00019
NM_000326.5(RLBP1):c.228G>A (p.Ser76=) rs202116993 0.00014
NM_000326.4(RLBP1):c.-285C>G rs574201786 0.00013
NM_000326.5(RLBP1):c.*403T>C rs766420046 0.00012
NM_000326.5(RLBP1):c.-233G>A rs886051504 0.00011
NM_000326.5(RLBP1):c.*256G>A rs1000064967 0.00009
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) rs200143313 0.00006
NM_000326.5(RLBP1):c.-169T>A rs903050784 0.00002
NM_000326.5(RLBP1):c.-234C>T rs779779512 0.00002
NM_000326.5(RLBP1):c.-72C>T rs886051501 0.00002
NM_000326.5(RLBP1):c.525+14C>T rs1173705310 0.00002
NM_000326.5(RLBP1):c.*212G>A rs1281765664 0.00001
NM_000326.5(RLBP1):c.-104T>G rs886051502 0.00001
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) rs762121817 0.00001
NM_000326.5(RLBP1):c.626T>C (p.Met209Thr) rs775355367 0.00001
NM_000326.5(RLBP1):c.684+6G>C rs755347677 0.00001
NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln) rs150318794 0.00001
NM_000326.5(RLBP1):c.*135G>A rs2051524190
NM_000326.5(RLBP1):c.*301T>A rs2051522830
NM_000326.5(RLBP1):c.*334T>C rs886051500
NM_000326.5(RLBP1):c.-182G>C rs886051503
NM_000326.5(RLBP1):c.105C>T (p.Gly35=) rs373881009
NM_000326.5(RLBP1):c.228G>C (p.Ser76=) rs202116993
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) rs143121722
NM_000326.5(RLBP1):c.526-4C>T rs1200459832
NM_000326.5(RLBP1):c.78A>T (p.Thr26=) rs780567351
NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr) rs2051527243
NM_000326.5(RLBP1):c.924C>A (p.Pro308=) rs144615495

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