ClinVar Miner

List of variants in gene REL studied for not provided

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Gene type:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_001291746.2(REL):c.1082C>G (p.Pro361Arg) rs34661029 0.00600
NM_001291746.2(REL):c.1632T>C (p.Asn544=) rs78586857 0.00426
NM_001291746.2(REL):c.992-7C>A rs142878172 0.00380
NM_001291746.2(REL):c.1201A>G (p.Thr401Ala) rs140572082 0.00021
NM_001291746.2(REL):c.1656T>G (p.Thr552=) rs751888284 0.00001
NM_001291746.2(REL):c.10+10C>T
NM_001291746.2(REL):c.10+11A>T
NM_001291746.2(REL):c.10+12T>C
NM_001291746.2(REL):c.10+8T>C
NM_001291746.2(REL):c.1018G>A (p.Val340Ile)
NM_001291746.2(REL):c.1034C>G (p.Pro345Arg)
NM_001291746.2(REL):c.1035T>C (p.Pro345=)
NM_001291746.2(REL):c.1036A>G (p.Thr346Ala)
NM_001291746.2(REL):c.1062C>G (p.Ser354=)
NM_001291746.2(REL):c.1064A>C (p.Tyr355Ser)
NM_001291746.2(REL):c.1065C>T (p.Tyr355=)
NM_001291746.2(REL):c.1067A>G (p.Tyr356Cys)
NM_001291746.2(REL):c.1067A>T (p.Tyr356Phe)
NM_001291746.2(REL):c.1083C>T (p.Pro361=)
NM_001291746.2(REL):c.11-5T>C
NM_001291746.2(REL):c.1114A>G (p.Met372Val)
NM_001291746.2(REL):c.1115T>A (p.Met372Lys)
NM_001291746.2(REL):c.1123C>T (p.Leu375=)
NM_001291746.2(REL):c.112G>A (p.Glu38Lys)
NM_001291746.2(REL):c.1143A>C (p.Ser381=)
NM_001291746.2(REL):c.1143A>G (p.Ser381=)
NM_001291746.2(REL):c.1148T>C (p.Val383Ala)
NM_001291746.2(REL):c.1158C>A (p.Pro386=)
NM_001291746.2(REL):c.1167C>T (p.Arg389=)
NM_001291746.2(REL):c.1175A>G (p.Asn392Ser)
NM_001291746.2(REL):c.11G>A (p.Gly4Asp)
NM_001291746.2(REL):c.1202C>T (p.Thr401Ile)
NM_001291746.2(REL):c.1215T>C (p.Pro405=)
NM_001291746.2(REL):c.1219A>G (p.Asn407Asp)
NM_001291746.2(REL):c.1224G>A (p.Ser408=)
NM_001291746.2(REL):c.1231A>G (p.Ile411Val)
NM_001291746.2(REL):c.128A>G (p.Asn43Ser)
NM_001291746.2(REL):c.1295A>C (p.Asn432Thr)
NM_001291746.2(REL):c.1298A>G (p.Asn433Ser)
NM_001291746.2(REL):c.1302C>T (p.Ala434=)
NM_001291746.2(REL):c.1303G>A (p.Asp435Asn)
NM_001291746.2(REL):c.1305T>C (p.Asp435=)
NM_001291746.2(REL):c.1314C>T (p.Val438=)
NM_001291746.2(REL):c.1326G>A (p.Ala442=)
NM_001291746.2(REL):c.132C>T (p.Asn44=)
NM_001291746.2(REL):c.133C>A (p.Arg45=)
NM_001291746.2(REL):c.1352A>G (p.Tyr451Cys)
NM_001291746.2(REL):c.1362T>C (p.Ser454=)
NM_001291746.2(REL):c.1363G>C (p.Asp455His)
NM_001291746.2(REL):c.1366C>G (p.Pro456Ala)
NM_001291746.2(REL):c.138A>G (p.Thr46=)
NM_001291746.2(REL):c.1428G>A (p.Glu476=)
NM_001291746.2(REL):c.1443A>G (p.Arg481=)
NM_001291746.2(REL):c.1445T>C (p.Leu482Pro)
NM_001291746.2(REL):c.1467C>T (p.Asn489=)
NM_001291746.2(REL):c.1473A>G (p.Ser491=)
NM_001291746.2(REL):c.1474T>G (p.Cys492Gly)
NM_001291746.2(REL):c.1479T>C (p.Asn493=)
NM_001291746.2(REL):c.1509G>C (p.Gln503His)
NM_001291746.2(REL):c.153+17C>T
NM_001291746.2(REL):c.153+20T>A
NM_001291746.2(REL):c.154-10C>G
NM_001291746.2(REL):c.154-12C>T
NM_001291746.2(REL):c.154-14C>T
NM_001291746.2(REL):c.1545C>T (p.Gly515=)
NM_001291746.2(REL):c.1546G>A (p.Ala516Thr)
NM_001291746.2(REL):c.1567T>G (p.Phe523Val)
NM_001291746.2(REL):c.1573T>C (p.Ser525Pro)
NM_001291746.2(REL):c.1577A>T (p.Gln526Leu)
NM_001291746.2(REL):c.1578A>G (p.Gln526=)
NM_001291746.2(REL):c.15G>A (p.Ala5=)
NM_001291746.2(REL):c.1608T>C (p.Ser536=)
NM_001291746.2(REL):c.1620C>T (p.Asn540=)
NM_001291746.2(REL):c.1637C>T (p.Ser546Leu)
NM_001291746.2(REL):c.1638G>A (p.Ser546=)
NM_001291746.2(REL):c.1656T>A (p.Thr552=)
NM_001291746.2(REL):c.1659T>C (p.Asn553=)
NM_001291746.2(REL):c.165T>C (p.Tyr55=)
NM_001291746.2(REL):c.1666A>G (p.Ser556Gly)
NM_001291746.2(REL):c.1688G>A (p.Ser563Asn)
NM_001291746.2(REL):c.1692G>A (p.Gln564=)
NM_001291746.2(REL):c.1709G>A (p.Ser570Asn)
NM_001291746.2(REL):c.171A>G (p.Gly57=)
NM_001291746.2(REL):c.1737C>T (p.Ser579=)
NM_001291746.2(REL):c.1749A>T (p.Glu583Asp)
NM_001291746.2(REL):c.1759G>A (p.Val587Ile)
NM_001291746.2(REL):c.1761A>G (p.Val587=)
NM_001291746.2(REL):c.183G>A (p.Val61=)
NM_001291746.2(REL):c.192A>C (p.Thr64=)
NM_001291746.2(REL):c.192A>G (p.Thr64=) rs6729789
NM_001291746.2(REL):c.24G>A (p.Pro8=)
NM_001291746.2(REL):c.258C>T (p.Asp86=)
NM_001291746.2(REL):c.289C>T (p.Arg97Cys)
NM_001291746.2(REL):c.297T>A (p.Pro99=)
NM_001291746.2(REL):c.302+19A>G
NM_001291746.2(REL):c.302+8C>A
NM_001291746.2(REL):c.303-13T>C
NM_001291746.2(REL):c.303-19A>T
NM_001291746.2(REL):c.303-3T>C
NM_001291746.2(REL):c.303-4C>T
NM_001291746.2(REL):c.303-6T>C
NM_001291746.2(REL):c.303-9dup
NM_001291746.2(REL):c.313T>C (p.Leu105=)
NM_001291746.2(REL):c.323G>A (p.Arg108Gln)
NM_001291746.2(REL):c.330G>T (p.Val110=)
NM_001291746.2(REL):c.345A>G (p.Val115=)
NM_001291746.2(REL):c.364A>C (p.Arg122=)
NM_001291746.2(REL):c.372G>A (p.Lys124=)
NM_001291746.2(REL):c.392A>G (p.Asn131Ser)
NM_001291746.2(REL):c.394+20T>G
NM_001291746.2(REL):c.394+3A>G
NM_001291746.2(REL):c.394+8T>C
NM_001291746.2(REL):c.395-12_395-9dup
NM_001291746.2(REL):c.395-13T>A
NM_001291746.2(REL):c.395-14T>C
NM_001291746.2(REL):c.395-15T>C
NM_001291746.2(REL):c.395-18T>A
NM_001291746.2(REL):c.395-19A>T
NM_001291746.2(REL):c.395-6A>C
NM_001291746.2(REL):c.395-9del
NM_001291746.2(REL):c.395-9dup
NM_001291746.2(REL):c.435C>T (p.Leu145=)
NM_001291746.2(REL):c.475G>A (p.Glu159Lys)
NM_001291746.2(REL):c.491C>T (p.Thr164Met)
NM_001291746.2(REL):c.492G>A (p.Thr164=)
NM_001291746.2(REL):c.498T>C (p.Ala166=)
NM_001291746.2(REL):c.513C>T (p.Val171=)
NM_001291746.2(REL):c.516G>A (p.Ser172=)
NM_001291746.2(REL):c.528T>C (p.Tyr176=)
NM_001291746.2(REL):c.535+8C>T
NM_001291746.2(REL):c.536-18A>G
NM_001291746.2(REL):c.539C>T (p.Ala180Val)
NM_001291746.2(REL):c.552A>C (p.Ala184=)
NM_001291746.2(REL):c.555A>G (p.Glu185=)
NM_001291746.2(REL):c.564T>C (p.Ile188=)
NM_001291746.2(REL):c.57G>A (p.Arg19=)
NM_001291746.2(REL):c.618A>G (p.Leu206=)
NM_001291746.2(REL):c.640+13T>G
NM_001291746.2(REL):c.640+2TATT[2]
NM_001291746.2(REL):c.641-17G>T
NM_001291746.2(REL):c.670G>A (p.Asp224Asn)
NM_001291746.2(REL):c.684A>G (p.Lys228=)
NM_001291746.2(REL):c.6C>A (p.Ala2=)
NM_001291746.2(REL):c.711C>T (p.His237=)
NM_001291746.2(REL):c.750C>T (p.Cys250=)
NM_001291746.2(REL):c.754G>A (p.Ala252Thr)
NM_001291746.2(REL):c.757A>G (p.Ile253Val)
NM_001291746.2(REL):c.767C>A (p.Pro256His)
NM_001291746.2(REL):c.768C>T (p.Pro256=)
NM_001291746.2(REL):c.789G>A (p.Leu263=)
NM_001291746.2(REL):c.792G>A (p.Arg264=)
NM_001291746.2(REL):c.804C>T (p.Asp268=)
NM_001291746.2(REL):c.807G>A (p.Gln269=)
NM_001291746.2(REL):c.834A>G (p.Arg278=)
NM_001291746.2(REL):c.853+19_853+20delinsGG
NM_001291746.2(REL):c.853+8A>G
NM_001291746.2(REL):c.853+9T>C
NM_001291746.2(REL):c.854-12C>T
NM_001291746.2(REL):c.854-6A>C
NM_001291746.2(REL):c.854-6A>G
NM_001291746.2(REL):c.854-6A>T
NM_001291746.2(REL):c.854-8del
NM_001291746.2(REL):c.861C>T (p.Tyr287=)
NM_001291746.2(REL):c.879A>G (p.Lys293=)
NM_001291746.2(REL):c.889A>T (p.Thr297Ser)
NM_001291746.2(REL):c.892C>G (p.Leu298Val)
NM_001291746.2(REL):c.906A>G (p.Lys302=)
NM_001291746.2(REL):c.910_911del (p.Cys304fs)
NM_001291746.2(REL):c.912C>T (p.Cys304=)
NM_001291746.2(REL):c.922+12T>C
NM_001291746.2(REL):c.922+18C>T
NM_001291746.2(REL):c.922+19G>A
NM_001291746.2(REL):c.922+19G>T
NM_001291746.2(REL):c.922+1G>A
NM_001291746.2(REL):c.923-140C>G
NM_001291746.2(REL):c.923-142A>C
NM_001291746.2(REL):c.923-142A>G
NM_001291746.2(REL):c.923-151A>G
NM_001291746.2(REL):c.923-15del
NM_001291746.2(REL):c.923-176G>A
NM_001291746.2(REL):c.923-17A>C
NM_001291746.2(REL):c.923-17A>G
NM_001291746.2(REL):c.923-184_923-183del
NM_001291746.2(REL):c.923-196T>C
NM_001291746.2(REL):c.923-19A>G
NM_001291746.2(REL):c.923-201G>C
NM_001291746.2(REL):c.923-201G>T
NM_001291746.2(REL):c.923-77G>A
NM_001291746.2(REL):c.923-78C>T
NM_001291746.2(REL):c.923-81G>A
NM_001291746.2(REL):c.923-82C>T
NM_001291746.2(REL):c.923-84C>A
NM_001291746.2(REL):c.957C>T (p.Leu319=)
NM_001291746.2(REL):c.965T>C (p.Ile322Thr)
NM_001291746.2(REL):c.992-20A>T
NM_001291746.2(REL):c.995C>T (p.Pro332Leu)

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