ClinVar Miner

List of variants in gene RLBP1 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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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.684+20C>T rs950541 0.30776
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_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) rs151141842 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.361C>T (p.Arg121Trp) rs201153598 0.00011
NM_000326.5(RLBP1):c.*256G>A rs1000064967 0.00009
NM_000326.5(RLBP1):c.875C>T (p.Thr292Met) rs201588178 0.00006
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) rs200143313 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) rs138965708 0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
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.362G>A (p.Arg121Gln) rs139108078 0.00002
NM_000326.5(RLBP1):c.466C>T (p.Arg156Ter) rs776260543 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.12+2del rs1445909096 0.00001
NM_000326.5(RLBP1):c.141+2T>C rs760650165 0.00001
NM_000326.5(RLBP1):c.141G>A (p.Lys47=) rs766278489 0.00001
NM_000326.5(RLBP1):c.255G>A (p.Ala85=) rs557154377 0.00001
NM_000326.5(RLBP1):c.282del (p.Phe95fs) rs759505780 0.00001
NM_000326.5(RLBP1):c.333T>G (p.Tyr111Ter) rs766675673 0.00001
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) rs762121817 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 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
NC_000015.10:g.(?_89210284)_(89211902_89215059)del
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.-223-1G>A rs1032783403
NM_000326.5(RLBP1):c.105C>T (p.Gly35=) rs373881009
NM_000326.5(RLBP1):c.115C>A (p.Gln39Lys)
NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter) rs561618945
NM_000326.5(RLBP1):c.203del (p.Glu68fs)
NM_000326.5(RLBP1):c.221C>T (p.Ala74Val) rs1238365040
NM_000326.5(RLBP1):c.228G>C (p.Ser76=) rs202116993
NM_000326.5(RLBP1):c.229G>C (p.Gly77Arg) rs755885208
NM_000326.5(RLBP1):c.255_258dup (p.Arg87fs) rs2051588436
NM_000326.5(RLBP1):c.259A>T (p.Arg87Trp)
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) rs143121722
NM_000326.5(RLBP1):c.341T>C (p.Leu114Pro)
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) rs762326108
NM_000326.5(RLBP1):c.410G>A (p.Arg137His)
NM_000326.5(RLBP1):c.42G>T (p.Glu14Asp)
NM_000326.5(RLBP1):c.433C>A (p.Pro145Thr)
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
NM_000326.5(RLBP1):c.467G>A (p.Arg156Gln)
NM_000326.5(RLBP1):c.526-4C>T rs1200459832
NM_000326.5(RLBP1):c.55C>T (p.Arg19Cys)
NM_000326.5(RLBP1):c.683A>G (p.Gln228Arg)
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000326.5(RLBP1):c.78A>T (p.Thr26=) rs780567351
NM_000326.5(RLBP1):c.79del (p.Thr27fs) rs1567124404
NM_000326.5(RLBP1):c.827del (p.Phe276fs) rs2150968520
NM_000326.5(RLBP1):c.832del (p.Gln278fs) rs2051527389
NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr) rs2051527243
NM_000326.5(RLBP1):c.841G>A (p.Asp281Asn)
NM_000326.5(RLBP1):c.924C>A (p.Pro308=) rs144615495

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