ClinVar Miner

List of variants in gene RERE studied for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

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Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_001042681.2(RERE):c.3945A>G (p.Arg1315=) rs1058766 0.73369
NM_001042681.2(RERE):c.3951G>T (p.Arg1317=) rs11121172 0.73237
NM_001042681.2(RERE):c.2364A>G (p.Pro788=) rs13596 0.72274
NM_001042681.2(RERE):c.2475G>A (p.Pro825=) rs2784735 0.50192
NM_001042681.2(RERE):c.879+20C>T rs77037803 0.00942
NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr) rs115891071 0.00535
NM_001042681.2(RERE):c.1524C>T (p.Arg508=) rs139299521 0.00342
NM_001042681.2(RERE):c.3696C>T (p.Phe1232=) rs141711704 0.00289
NM_001042681.2(RERE):c.697G>A (p.Val233Ile) rs147116390 0.00048
NM_001042681.2(RERE):c.3094C>T (p.Pro1032Ser) rs560145297 0.00020
NM_001042681.2(RERE):c.2422C>A (p.Pro808Thr) rs957128425 0.00004
NM_001042681.2(RERE):c.522+3644C>T rs894535960 0.00004
NM_001042681.2(RERE):c.1712G>A (p.Ser571Asn) rs1048848500 0.00003
NM_001042681.2(RERE):c.2507C>T (p.Pro836Leu) rs1239182312 0.00003
NM_001042681.2(RERE):c.2764C>G (p.Pro922Ala) rs571471435 0.00002
NM_001042681.2(RERE):c.4354G>A (p.Val1452Ile) rs751496233 0.00002
NM_001042681.2(RERE):c.116G>A (p.Arg39Gln) rs199717815 0.00001
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln) rs762635516 0.00001
NM_001042681.2(RERE):c.2122A>G (p.Asn708Asp) rs1641575192 0.00001
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu) rs1057518295 0.00001
NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser) rs1297285666 0.00001
NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro) rs769674978 0.00001
NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala) rs1259871272 0.00001
NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val) rs1215653376 0.00001
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg) rs766951273 0.00001
NM_001042681.2(RERE):c.3847C>T (p.Pro1283Ser) rs778692247 0.00001
NM_001042681.2(RERE):c.43C>T (p.Arg15Trp) rs1244831205 0.00001
NM_001042681.2(RERE):c.1104+1G>C
NM_001042681.2(RERE):c.1190C>T (p.Thr397Ile) rs1557644694
NM_001042681.2(RERE):c.1198G>A (p.Glu400Lys)
NM_001042681.2(RERE):c.1203+3653A>G rs2124113169
NM_001042681.2(RERE):c.1276A>C (p.Lys426Gln) rs2124472392
NM_001042681.2(RERE):c.1343G>A (p.Arg448Gln) rs2124378791
NM_001042681.2(RERE):c.137G>T (p.Gly46Val)
NM_001042681.2(RERE):c.142A>G (p.Lys48Glu)
NM_001042681.2(RERE):c.143A>G (p.Lys48Arg)
NM_001042681.2(RERE):c.14A>G (p.Lys5Arg) rs1553128615
NM_001042681.2(RERE):c.1541-1G>T rs2124375440
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs) rs1641706044
NM_001042681.2(RERE):c.1735G>A (p.Gly579Ser)
NM_001042681.2(RERE):c.1762C>T (p.Arg588Trp) rs1641641189
NM_001042681.2(RERE):c.1934_1936del (p.Lys645del)
NM_001042681.2(RERE):c.1937G>C (p.Ser646Thr)
NM_001042681.2(RERE):c.2134T>C (p.Ser712Pro) rs1570039432
NM_001042681.2(RERE):c.215C>G (p.Thr72Arg)
NM_001042681.2(RERE):c.2249_2270dup (p.Thr758fs) rs878853252
NM_001042681.2(RERE):c.224A>G (p.Asn75Ser)
NM_001042681.2(RERE):c.2285C>T (p.Pro762Leu)
NM_001042681.2(RERE):c.2300C>T (p.Thr767Met)
NM_001042681.2(RERE):c.2336_2347dup (p.Ser782_Gln783insProThrAlaSer)
NM_001042681.2(RERE):c.238C>T (p.Pro80Ser)
NM_001042681.2(RERE):c.241A>G (p.Lys81Glu) rs1638277978
NM_001042681.2(RERE):c.248dup (p.Ser84fs) rs1557461427
NM_001042681.2(RERE):c.2498C>T (p.Ala833Val)
NM_001042681.2(RERE):c.2519C>T (p.Ser840Phe) rs1031152969
NM_001042681.2(RERE):c.2530C>T (p.Pro844Ser)
NM_001042681.2(RERE):c.2565C>A (p.His855Gln) rs1641546992
NM_001042681.2(RERE):c.2624C>T (p.Pro875Leu)
NM_001042681.2(RERE):c.2626C>T (p.Pro876Ser)
NM_001042681.2(RERE):c.2629C>A (p.Gln877Lys)
NM_001042681.2(RERE):c.2638_2644del (p.Gln880fs)
NM_001042681.2(RERE):c.2650C>T (p.Pro884Ser)
NM_001042681.2(RERE):c.2675C>T (p.Ala892Val)
NM_001042681.2(RERE):c.2721_2722delinsAT (p.Gln908Ter)
NM_001042681.2(RERE):c.2741G>A (p.Arg914Gln)
NM_001042681.2(RERE):c.2784C>G (p.Ile928Met)
NM_001042681.2(RERE):c.2794C>G (p.Pro932Ala)
NM_001042681.2(RERE):c.2814G>C (p.Gln938His)
NM_001042681.2(RERE):c.2819C>T (p.Pro940Leu)
NM_001042681.2(RERE):c.2861C>T (p.Pro954Leu) rs1641529917
NM_001042681.2(RERE):c.2927C>T (p.Ser976Phe)
NM_001042681.2(RERE):c.2963T>A (p.Leu988Gln)
NM_001042681.2(RERE):c.3039dup (p.Pro1014fs) rs1557586047
NM_001042681.2(RERE):c.3060C>A (p.His1020Gln)
NM_001042681.2(RERE):c.3065C>T (p.Pro1022Leu)
NM_001042681.2(RERE):c.3095C>A (p.Pro1032His) rs1479474517
NM_001042681.2(RERE):c.3136C>G (p.Pro1046Ala) rs977359991
NM_001042681.2(RERE):c.3136C>T (p.Pro1046Ser)
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu) rs1641510834
NM_001042681.2(RERE):c.3221C>A (p.Ala1074Glu) rs764784467
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001042681.2(RERE):c.326-8998C>A rs1321833811
NM_001042681.2(RERE):c.3346C>A (p.Pro1116Thr) rs1557585339
NM_001042681.2(RERE):c.3379G>A (p.Ala1127Thr)
NM_001042681.2(RERE):c.33_38del (p.Glu12_Lys13del)
NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp) rs1178020687
NM_001042681.2(RERE):c.3466G>T (p.Gly1156Trp) rs766951273
NM_001042681.2(RERE):c.3479C>T (p.Ala1160Val) rs1641487262
NM_001042681.2(RERE):c.3481A>G (p.Lys1161Glu)
NM_001042681.2(RERE):c.348del (p.Arg117fs)
NM_001042681.2(RERE):c.3493_3504del (p.Glu1165_Glu1168del)
NM_001042681.2(RERE):c.3517G>T (p.Glu1173Ter)
NM_001042681.2(RERE):c.3531A>C (p.Lys1177Asn)
NM_001042681.2(RERE):c.3535C>T (p.Arg1179Ter)
NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2]) rs147985313
NM_001042681.2(RERE):c.3556AAGGAG[4] (p.1186KE[4]) rs147985313
NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6]) rs201570536
NM_001042681.2(RERE):c.3587G>A (p.Arg1196Gln) rs1408948503
NM_001042681.2(RERE):c.358dup (p.Thr120fs)
NM_001042681.2(RERE):c.3591G>T (p.Glu1197Asp) rs2124364110
NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)
NM_001042681.2(RERE):c.3684dup (p.Arg1229fs)
NM_001042681.2(RERE):c.3785C>G (p.Pro1262Arg) rs878853270
NM_001042681.2(RERE):c.3803C>A (p.Thr1268Asn) rs1641415262
NM_001042681.2(RERE):c.3867G>T (p.Met1289Ile)
NM_001042681.2(RERE):c.3914G>A (p.Arg1305Gln)
NM_001042681.2(RERE):c.3940A>C (p.Ile1314Leu)
NM_001042681.2(RERE):c.3974C>T (p.Pro1325Leu)
NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp) rs868002362
NM_001042681.2(RERE):c.4023_4024insT (p.Asn1342Ter) rs2124359906
NM_001042681.2(RERE):c.4042G>T (p.Ala1348Ser) rs1641392810
NM_001042681.2(RERE):c.4220C>G (p.Ala1407Gly)
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001042681.2(RERE):c.4297C>G (p.His1433Asp) rs1553154132
NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro) rs1557582271
NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr) rs1557582259
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001042681.2(RERE):c.4304A>T (p.His1435Leu) rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del)
NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg) rs1321809020
NM_001042681.2(RERE):c.4331T>G (p.Leu1444Arg)
NM_001042681.2(RERE):c.4399C>G (p.Arg1467Gly)
NM_001042681.2(RERE):c.4412C>T (p.Pro1471Leu)
NM_001042681.2(RERE):c.4427C>T (p.Pro1476Leu) rs2124354095
NM_001042681.2(RERE):c.4457A>G (p.Glu1486Gly)
NM_001042681.2(RERE):c.452dup (p.Ala152fs) rs1233062866
NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu) rs1641253525
NM_001042681.2(RERE):c.621del (p.Asn207fs)
NM_001042681.2(RERE):c.635G>A (p.Gly212Glu) rs1646009052
NM_001042681.2(RERE):c.707A>G (p.Tyr236Cys) rs1570434132
NM_001042681.2(RERE):c.726-2A>G
NM_001042681.2(RERE):c.72_73dup (p.Lys25fs) rs759541634
NM_001042681.2(RERE):c.831-3dup
NM_001042681.2(RERE):c.890C>T (p.Pro297Leu) rs1645061321
NM_001042681.2(RERE):c.938A>G (p.His313Arg)
NM_001042681.2:c.325+153_326-10741del
NM_012102.4(RERE):c.70_73dup (p.Lys25fs) rs759541634
Single allele

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