List of variants reported as likely benign for Joubert syndrome with oculorenal defect by Invitae

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 136

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)	rs141817764	0.00211
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)	rs138509553	0.00199
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)	rs200714434	0.00136
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)	rs151163650	0.00076
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)	rs139387935	0.00056
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)	rs370010097	0.00041
NM_001044385.3(TMEM237):c.554-10G>A	rs371503069	0.00033
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)	rs199624987	0.00031
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)	rs370418884	0.00030
NM_001044385.3(TMEM237):c.944-16T>C	rs369720243	0.00026
NM_016464.5(TMEM138):c.128+7G>T	rs560650147	0.00023
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)	rs372100073	0.00017
NM_001044385.3(TMEM237):c.79+8del	rs759786234	0.00016
NM_016464.5(TMEM138):c.414C>T (p.Ala138=)	rs151094420	0.00012
NM_016464.5(TMEM138):c.465G>A (p.Lys155=)	rs141851191	0.00011
NM_016464.5(TMEM138):c.129-4A>G	rs372877379	0.00009
NM_001044385.3(TMEM237):c.275-9T>C	rs749658028	0.00008
NM_001044385.3(TMEM237):c.738G>A (p.Val246=)	rs199947989	0.00006
NM_001044385.3(TMEM237):c.74+15C>T	rs375401635	0.00006
NM_001044385.3(TMEM237):c.79+15T>C	rs182250754	0.00006
NM_016464.5(TMEM138):c.81C>T (p.Phe27=)	rs149327827	0.00006
NM_001044385.3(TMEM237):c.137-14C>G	rs760624801	0.00005
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)	rs773344011	0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)	rs767711440	0.00004
NM_001044385.3(TMEM237):c.43-8C>T	rs759325746	0.00004
NM_001044385.3(TMEM237):c.553+9A>T	rs568158023	0.00004
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)	rs879874108	0.00003
NM_001044385.3(TMEM237):c.75-8C>T	rs1274569461	0.00003
NM_001044385.3(TMEM237):c.274+18G>A	rs762194214	0.00002
NM_001044385.3(TMEM237):c.75-7G>A	rs1443411958	0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)	rs934193386	0.00002
NM_016464.5(TMEM138):c.128+8C>T	rs769334895	0.00002
NM_016464.5(TMEM138):c.192C>T (p.Phe64=)	rs199841349	0.00002
NM_016464.5(TMEM138):c.426C>T (p.Gly142=)	rs781330063	0.00002
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=)	rs770907860	0.00001
NM_001044385.3(TMEM237):c.1159+20G>A	rs1162670210	0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)	rs1317494328	0.00001
NM_001044385.3(TMEM237):c.136+17T>C	rs1461794959	0.00001
NM_001044385.3(TMEM237):c.136+7C>T	rs768764111	0.00001
NM_001044385.3(TMEM237):c.42+15G>A	rs1461749315	0.00001
NM_001044385.3(TMEM237):c.43-6C>T	rs886974025	0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)	rs1466574515	0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)	rs763452347	0.00001
NM_016464.5(TMEM138):c.129-18T>A	rs1181378192	0.00001
NM_016464.5(TMEM138):c.129-20A>T	rs1477684645	0.00001
NM_016464.5(TMEM138):c.129-8G>T	rs1438561210	0.00001
NM_016464.5(TMEM138):c.276C>T (p.Ser92=)	rs756828257	0.00001
NM_016464.5(TMEM138):c.300+17G>A	rs1858147311	0.00001
NM_016464.5(TMEM138):c.301-9C>A	rs764884921	0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)	rs548368196	0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)	rs569659022	0.00001
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
NM_001044385.3(TMEM237):c.1038-13T>C
NM_001044385.3(TMEM237):c.1038-16G>A
NM_001044385.3(TMEM237):c.1038-18G>C	rs1462537932
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
NM_001044385.3(TMEM237):c.1159+15A>C
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
NM_001044385.3(TMEM237):c.136+19T>C	rs2105903480
NM_001044385.3(TMEM237):c.136+20T>C
NM_001044385.3(TMEM237):c.137-14_137-13del
NM_001044385.3(TMEM237):c.137-17A>G
NM_001044385.3(TMEM237):c.137-19C>G	rs369430368
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=)	rs2105902384
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=)	rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)	rs2105902357
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=)	rs377090903
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
NM_001044385.3(TMEM237):c.274+14C>G
NM_001044385.3(TMEM237):c.274+18G>C
NM_001044385.3(TMEM237):c.274+9A>G
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
NM_001044385.3(TMEM237):c.395+16T>C
NM_001044385.3(TMEM237):c.396-15A>G
NM_001044385.3(TMEM237):c.396-4A>G
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)	rs1253365223
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=)	rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G	rs2105906044
NM_001044385.3(TMEM237):c.42+18C>T
NM_001044385.3(TMEM237):c.42+7G>T
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=)	rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)	rs1433478535
NM_001044385.3(TMEM237):c.554-3dup	rs778807445
NM_001044385.3(TMEM237):c.554-5C>T
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)	rs2105899171
NM_001044385.3(TMEM237):c.677+18A>G
NM_001044385.3(TMEM237):c.678-13C>T	rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A
NM_001044385.3(TMEM237):c.678-6A>G
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)	rs2105904439
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)	rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A
NM_001044385.3(TMEM237):c.75-5G>A
NM_001044385.3(TMEM237):c.79+20A>T	rs745908076
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
NM_001044385.3(TMEM237):c.80-20C>T	rs753443048
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)	rs2105898943
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)	rs2105898925
NM_001044385.3(TMEM237):c.869+11T>C
NM_001044385.3(TMEM237):c.869+15T>C
NM_001044385.3(TMEM237):c.869+16C>T	rs980158363
NM_001044385.3(TMEM237):c.869+8C>G
NM_001044385.3(TMEM237):c.870-4C>G
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)	rs2105898446
NM_001044385.3(TMEM237):c.943+15dup
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
NM_016464.5(TMEM138):c.105T>C (p.Pro35=)	rs1370730016
NM_016464.5(TMEM138):c.128+19T>G
NM_016464.5(TMEM138):c.129-10A>G
NM_016464.5(TMEM138):c.129-10dup	rs2135157730
NM_016464.5(TMEM138):c.129-19C>T	rs2135157682
NM_016464.5(TMEM138):c.12C>T (p.Thr4=)	rs376500080
NM_016464.5(TMEM138):c.195C>T (p.Val65=)	rs2135158008
NM_016464.5(TMEM138):c.204T>C (p.Ala68=)	rs2135158047
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
NM_016464.5(TMEM138):c.231G>A (p.Lys77=)	rs2135158146
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
NM_016464.5(TMEM138):c.288T>C (p.His96=)
NM_016464.5(TMEM138):c.300+13G>A	rs2135158448
NM_016464.5(TMEM138):c.301-12C>T
NM_016464.5(TMEM138):c.301-13A>G
NM_016464.5(TMEM138):c.301-16C>T
NM_016464.5(TMEM138):c.301-18A>G
NM_016464.5(TMEM138):c.303C>T (p.Asn101=)	rs2135162983
NM_016464.5(TMEM138):c.377-11C>T	rs749034092
NM_016464.5(TMEM138):c.377-19T>C
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
NM_016464.5(TMEM138):c.435C>T (p.His145=)
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)

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