ClinVar Miner

List of variants in gene RERE reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001042681.2(RERE):c.3061C>A (p.Pro1021Thr) rs771321205 0.00007
NM_001042681.2(RERE):c.1688A>G (p.Asp563Gly) rs886196440 0.00002
NM_001042681.2(RERE):c.1648G>A (p.Asp550Asn) rs770580574 0.00001
NM_001042681.2(RERE):c.1727G>A (p.Arg576Gln) rs375547664 0.00001
NM_001042681.2(RERE):c.2560C>T (p.Pro854Ser) rs1035063066 0.00001
NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala) rs1259871272 0.00001
NM_001042681.2(RERE):c.1203+6C>T
NM_001042681.2(RERE):c.1316A>T (p.Lys439Met)
NM_001042681.2(RERE):c.1450G>A (p.Asp484Asn)
NM_001042681.2(RERE):c.1568G>A (p.Arg523Gln)
NM_001042681.2(RERE):c.1715T>C (p.Met572Thr)
NM_001042681.2(RERE):c.1802C>T (p.Pro601Leu)
NM_001042681.2(RERE):c.1832G>A (p.Arg611Gln)
NM_001042681.2(RERE):c.2030C>T (p.Pro677Leu)
NM_001042681.2(RERE):c.2123A>G (p.Asn708Ser)
NM_001042681.2(RERE):c.2263C>T (p.Pro755Ser)
NM_001042681.2(RERE):c.2378C>T (p.Ala793Val)
NM_001042681.2(RERE):c.2450CGC[3] (p.Pro818dup) rs1641553801
NM_001042681.2(RERE):c.248A>G (p.Lys83Arg)
NM_001042681.2(RERE):c.2665C>T (p.Pro889Ser)
NM_001042681.2(RERE):c.2669C>T (p.Ala890Val)
NM_001042681.2(RERE):c.2704G>C (p.Ala902Pro)
NM_001042681.2(RERE):c.2821G>A (p.Ala941Thr)
NM_001042681.2(RERE):c.2845C>T (p.Pro949Ser)
NM_001042681.2(RERE):c.2963T>A (p.Leu988Gln)
NM_001042681.2(RERE):c.3043C>T (p.Pro1015Ser)
NM_001042681.2(RERE):c.3050C>G (p.Pro1017Arg)
NM_001042681.2(RERE):c.3050C>T (p.Pro1017Leu)
NM_001042681.2(RERE):c.3092A>C (p.Gln1031Pro)
NM_001042681.2(RERE):c.3152C>G (p.Thr1051Ser)
NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu) rs1641510834
NM_001042681.2(RERE):c.3206C>G (p.Pro1069Arg)
NM_001042681.2(RERE):c.3251C>T (p.Ser1084Leu)
NM_001042681.2(RERE):c.3257G>A (p.Cys1086Tyr)
NM_001042681.2(RERE):c.3260C>G (p.Pro1087Arg)
NM_001042681.2(RERE):c.3368C>T (p.Thr1123Ile)
NM_001042681.2(RERE):c.3374G>A (p.Ser1125Asn)
NM_001042681.2(RERE):c.3463G>A (p.Ala1155Thr)
NM_001042681.2(RERE):c.3475C>A (p.Leu1159Met)
NM_001042681.2(RERE):c.3536G>T (p.Arg1179Leu) rs150925051
NM_001042681.2(RERE):c.3635C>T (p.Ala1212Val)
NM_001042681.2(RERE):c.3650_3679del (p.Leu1217_Gly1226del)
NM_001042681.2(RERE):c.3653G>C (p.Ser1218Thr)
NM_001042681.2(RERE):c.3826A>G (p.Met1276Val)
NM_001042681.2(RERE):c.3884T>C (p.Val1295Ala) rs1641408832
NM_001042681.2(RERE):c.3897C>G (p.Ile1299Met)
NM_001042681.2(RERE):c.3899G>A (p.Arg1300His)
NM_001042681.2(RERE):c.3925A>C (p.Ile1309Leu)
NM_001042681.2(RERE):c.3935G>A (p.Arg1312Gln)
NM_001042681.2(RERE):c.3989A>G (p.Lys1330Arg)
NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp) rs868002362
NM_001042681.2(RERE):c.4145C>T (p.Ala1382Val)
NM_001042681.2(RERE):c.4259T>C (p.Phe1420Ser)
NM_001042681.2(RERE):c.4297C>G (p.His1433Asp) rs1553154132
NM_001042681.2(RERE):c.430A>C (p.Thr144Pro)
NM_001042681.2(RERE):c.4326C>A (p.Asp1442Glu) rs1312955446
NM_001042681.2(RERE):c.4335C>A (p.His1445Gln)
NM_001042681.2(RERE):c.4349G>A (p.Gly1450Asp)
NM_001042681.2(RERE):c.4415C>G (p.Pro1472Arg)
NM_001042681.2(RERE):c.4471C>T (p.Arg1491Cys)
NM_001042681.2(RERE):c.4529C>T (p.Pro1510Leu) rs1553153672
NM_001042681.2(RERE):c.457T>C (p.Cys153Arg)
NM_001042681.2(RERE):c.4591G>T (p.Ala1531Ser)
NM_001042681.2(RERE):c.4624C>T (p.His1542Tyr)
NM_001042681.2(RERE):c.55C>G (p.Arg19Gly)
NM_001042681.2(RERE):c.664A>G (p.Ile222Val)
NM_001042681.2(RERE):c.697G>T (p.Val233Phe)
NM_001042681.2(RERE):c.931A>T (p.Thr311Ser)

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