List of variants in gene RERE reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_001042681.2(RERE):c.3004G>A (p.Ala1002Thr)	rs4990444	0.00620
NM_001042681.2(RERE):c.363G>A (p.Pro121=)	rs148683854	0.00442
NM_001042681.2(RERE):c.1524C>T (p.Arg508=)	rs139299521	0.00342
NM_001042681.2(RERE):c.3297C>T (p.Asp1099=)	rs148981427	0.00306
NM_001042681.2(RERE):c.1117G>A (p.Gly373Ser)	rs144174535	0.00162
NM_001042681.2(RERE):c.1448-7C>T	rs201749273	0.00124
NM_001042681.2(RERE):c.2773A>G (p.Met925Val)	rs148082830	0.00118
NM_001042681.2(RERE):c.3588A>G (p.Arg1196=)	rs149634880	0.00116
NM_001042681.2(RERE):c.1274A>G (p.Asn425Ser)	rs147112611	0.00098
NM_001042681.2(RERE):c.4515G>T (p.Gly1505=)	rs143882788	0.00095
NM_001042681.2(RERE):c.215C>T (p.Thr72Met)	rs116282153	0.00059
NM_001042681.2(RERE):c.240G>A (p.Pro80=)	rs144721444	0.00054
NM_001042681.2(RERE):c.1401G>A (p.Ala467=)	rs144935155	0.00051
NM_001042681.2(RERE):c.4054G>A (p.Ala1352Thr)	rs200525338	0.00030
NM_001042681.2(RERE):c.216G>A (p.Thr72=)	rs145173617	0.00028
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)	rs149900041	0.00024
NM_001042681.2(RERE):c.2598A>T (p.Pro866=)	rs751088456	0.00012
NM_001042681.2(RERE):c.3061C>A (p.Pro1021Thr)	rs771321205	0.00007
NM_001042681.2(RERE):c.3699G>A (p.Glu1233=)	rs761098792	0.00006
NM_001042681.2(RERE):c.4224G>A (p.Ser1408=)	rs773957558	0.00006
NM_001042681.2(RERE):c.2133G>A (p.Thr711=)	rs368487283	0.00005
NM_001042681.2(RERE):c.1372G>A (p.Val458Met)	rs1306272176	0.00001
NM_001042681.2(RERE):c.3414C>T (p.Asp1138=)	rs746701776	0.00001
GRCh37/hg19 1p36.23(chr1:8601273-8716356)x1
NM_001042681.2(RERE):c.1183T>C (p.Cys395Arg)	rs1570283259
NM_001042681.2(RERE):c.12CAAAGA[5] (p.4DK[5])	rs3831914
NM_001042681.2(RERE):c.1434G>A (p.Pro478=)
NM_001042681.2(RERE):c.1548A>G (p.Lys516=)
NM_001042681.2(RERE):c.165C>T (p.His55=)
NM_001042681.2(RERE):c.1682A>C (p.Glu561Ala)
NM_001042681.2(RERE):c.1739C>T (p.Ser580Leu)
NM_001042681.2(RERE):c.1740+177C>T
NM_001042681.2(RERE):c.1740+216G>A
NM_001042681.2(RERE):c.1792C>T (p.Arg598Cys)
NM_001042681.2(RERE):c.1845C>T (p.Ser615=)
NM_001042681.2(RERE):c.1850C>T (p.Ala617Val)
NM_001042681.2(RERE):c.1895C>T (p.Ser632Leu)
NM_001042681.2(RERE):c.1952G>T (p.Arg651Leu)	rs778509047
NM_001042681.2(RERE):c.2112C>T (p.Ile704=)
NM_001042681.2(RERE):c.2289G>A (p.Thr763=)
NM_001042681.2(RERE):c.2304C>G (p.Pro768=)
NM_001042681.2(RERE):c.2371C>T (p.Pro791Ser)
NM_001042681.2(RERE):c.2379G>A (p.Ala793=)
NM_001042681.2(RERE):c.2424C>A (p.Pro808=)
NM_001042681.2(RERE):c.2449_2460del (p.Pro817_Pro820del)	rs749071713
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup)	rs749071713
NM_001042681.2(RERE):c.2466A>G (p.Pro822=)
NM_001042681.2(RERE):c.2471C>T (p.Pro824Leu)
NM_001042681.2(RERE):c.2474C>T (p.Pro825Leu)
NM_001042681.2(RERE):c.2496G>A (p.Ser832=)
NM_001042681.2(RERE):c.253C>T (p.Arg85Cys)
NM_001042681.2(RERE):c.2541C>T (p.His847=)
NM_001042681.2(RERE):c.2661C>A (p.Thr887=)
NM_001042681.2(RERE):c.2808C>A (p.Ile936=)
NM_001042681.2(RERE):c.2871C>T (p.Phe957=)
NM_001042681.2(RERE):c.2970C>G (p.Leu990=)
NM_001042681.2(RERE):c.3006C>T (p.Ala1002=)
NM_001042681.2(RERE):c.3015C>A (p.Pro1005=)
NM_001042681.2(RERE):c.3015C>T (p.Pro1005=)
NM_001042681.2(RERE):c.3064C>T (p.Pro1022Ser)
NM_001042681.2(RERE):c.3099G>A (p.Pro1033=)
NM_001042681.2(RERE):c.3132T>C (p.Pro1044=)
NM_001042681.2(RERE):c.3165C>T (p.Thr1055=)
NM_001042681.2(RERE):c.3327C>T (p.Pro1109=)	rs958678326
NM_001042681.2(RERE):c.3437G>A (p.Arg1146Gln)	rs2124364640
NM_001042681.2(RERE):c.3516C>T (p.Arg1172=)
NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2])	rs147985313
NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])	rs201570536
NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6])	rs201570536
NM_001042681.2(RERE):c.3771C>T (p.Ser1257=)
NM_001042681.2(RERE):c.3900_3914del (p.Leu1304_Glu1308del)	rs779300628
NM_001042681.2(RERE):c.3921G>T (p.Arg1307=)
NM_001042681.2(RERE):c.3925ATCCGAGAGCGGGAG[1] (p.1309IRERE[1])	rs776543471
NM_001042681.2(RERE):c.3942C>A (p.Ile1314=)	rs751808354
NM_001042681.2(RERE):c.3950G>A (p.Arg1317Gln)
NM_001042681.2(RERE):c.39GGACCG[3] (p.14DR[5])	rs201665914
NM_001042681.2(RERE):c.4145C>T (p.Ala1382Val)
NM_001042681.2(RERE):c.4150C>T (p.Pro1384Ser)
NM_001042681.2(RERE):c.4214G>A (p.Arg1405His)
NM_001042681.2(RERE):c.4272G>A (p.Pro1424=)
NM_001042681.2(RERE):c.4335C>A (p.His1445Gln)
NM_001042681.2(RERE):c.4356T>G (p.Val1452=)
NM_001042681.2(RERE):c.439T>G (p.Leu147Val)	rs1570515580
NM_001042681.2(RERE):c.4428C>T (p.Pro1476=)
NM_001042681.2(RERE):c.4469T>C (p.Leu1490Pro)	rs1570013040
NM_001042681.2(RERE):c.4485C>T (p.Phe1495=)
NM_001042681.2(RERE):c.4538C>T (p.Ala1513Val)
NM_001042681.2(RERE):c.4545C>T (p.His1515=)
NM_001042681.2(RERE):c.4627A>G (p.Met1543Val)
NM_001042681.2(RERE):c.468G>A (p.Pro156=)
NM_001042681.2(RERE):c.570A>G (p.Gln190=)
NM_001042681.2(RERE):c.964G>A (p.Val322Ile)
NM_001042681.2(RERE):c.969C>T (p.Asn323=)

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