List of variants reported as uncertain significance for Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 by Fulgent Genetics, Fulgent Genetics

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

Total variants: 93

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)	rs149790559	0.00006
NM_003611.3(OFD1):c.2489-13G>A	rs377737395	0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)	rs371848382	0.00005
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)	rs1374240720	0.00004
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)	rs1376766768	0.00004
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)	rs772474080	0.00004
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)	rs761915805	0.00004
NM_003611.3(OFD1):c.2928+7G>A	rs912239987	0.00003
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)	rs762218314	0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)	rs763219658	0.00003
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)	rs778349684	0.00003
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)	rs759693810	0.00002
NM_003611.3(OFD1):c.2304C>A (p.Asp768Glu)	rs1285657350	0.00002
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)	rs761683644	0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)	rs776834508	0.00002
NM_003611.3(OFD1):c.730A>G (p.Met244Val)	rs770614769	0.00002
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)	rs758712291	0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)	rs312262864	0.00001
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)	rs758293823	0.00001
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)	rs1454731121	0.00001
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)	rs2047881997	0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met)	rs797045845	0.00001
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys)	rs1376239977	0.00001
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)	rs190688700	0.00001
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)	rs774888576	0.00001
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser)	rs2047912842	0.00001
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)	rs941770640	0.00001
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)	rs758641332	0.00001
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)	rs769469366	0.00001
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu)	rs1801618	0.00001
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)	rs755625951	0.00001
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)	rs1158126675	0.00001
NM_003611.3(OFD1):c.762A>C (p.Gln254His)	rs775148893	0.00001
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr)	rs1354561362	0.00001
NM_003611.3(OFD1):c.935+4A>G	rs1243725011	0.00001
NM_003611.3(OFD1):c.20_22del
NM_003611.3(OFD1):c.1106T>C (p.Ile369Thr)
NM_003611.3(OFD1):c.111+6G>A	rs2518743881
NM_003611.3(OFD1):c.1130-19T>A
NM_003611.3(OFD1):c.1179GGA[1] (p.Glu395del)
NM_003611.3(OFD1):c.1193A>T (p.Gln398Leu)
NM_003611.3(OFD1):c.1235C>G (p.Ser412Cys)
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)	rs752446194
NM_003611.3(OFD1):c.1330A>C (p.Lys444Gln)
NM_003611.3(OFD1):c.136C>G (p.His46Asp)
NM_003611.3(OFD1):c.1371A>G (p.Gln457=)
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)	rs1311727007
NM_003611.3(OFD1):c.1410C>G (p.Asn470Lys)
NM_003611.3(OFD1):c.1445T>C (p.Phe482Ser)
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)	rs2147032761
NM_003611.3(OFD1):c.1526A>G (p.Lys509Arg)
NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)
NM_003611.3(OFD1):c.1586A>G (p.Lys529Arg)
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)	rs2047794483
NM_003611.3(OFD1):c.1616T>C (p.Val539Ala)
NM_003611.3(OFD1):c.1697T>C (p.Ile566Thr)
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)	rs983722470
NM_003611.3(OFD1):c.1819A>G (p.Arg607Gly)
NM_003611.3(OFD1):c.184A>G (p.Ile62Val)
NM_003611.3(OFD1):c.1895A>T (p.Lys632Met)
NM_003611.3(OFD1):c.1917G>T (p.Gln639His)
NM_003611.3(OFD1):c.1985_1987del (p.Lys662del)
NM_003611.3(OFD1):c.1A>G (p.Met1Val)
NM_003611.3(OFD1):c.2008CCA[1] (p.Pro671del)	rs2518939342
NM_003611.3(OFD1):c.2047A>C (p.Thr683Pro)
NM_003611.3(OFD1):c.2069A>C (p.His690Pro)
NM_003611.3(OFD1):c.2098G>C (p.Glu700Gln)
NM_003611.3(OFD1):c.2161G>A (p.Ala721Thr)
NM_003611.3(OFD1):c.217G>A (p.Ala73Thr)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)	rs753498008
NM_003611.3(OFD1):c.2413C>A (p.Gln805Lys)
NM_003611.3(OFD1):c.2442C>A (p.Asp814Glu)
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)	rs142703521
NM_003611.3(OFD1):c.2600-3T>C
NM_003611.3(OFD1):c.2627A>G (p.Gln876Arg)	rs2518990412
NM_003611.3(OFD1):c.2638_2642delinsAAAAT (p.Glu880_Lys881delinsLysIle)
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile)	rs1555900190
NM_003611.3(OFD1):c.2757+5T>C
NM_003611.3(OFD1):c.281T>C (p.Phe94Ser)
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile)	rs2519003782
NM_003611.3(OFD1):c.2951_2952delinsGC (p.Glu984Gly)
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)	rs1235702491
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)	rs758646234
NM_003611.3(OFD1):c.382G>A (p.Val128Ile)	rs766600036
NM_003611.3(OFD1):c.450TCA[1] (p.His151del)	rs1569117650
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)	rs746789801
NM_003611.3(OFD1):c.706A>C (p.Lys236Gln)
NM_003611.3(OFD1):c.758G>A (p.Cys253Tyr)
NM_003611.3(OFD1):c.815A>G (p.His272Arg)	rs781277679
NM_003611.3(OFD1):c.851C>T (p.Ala284Val)
NM_003611.3(OFD1):c.856A>T (p.Arg286Trp)
NM_003611.3(OFD1):c.919G>C (p.Val307Leu)
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)	rs764424025

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.