List of variants studied for Joubert syndrome 20; Meckel syndrome, type 11 by Fulgent Genetics, Fulgent Genetics

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		ClinVar version:

Total variants: 88

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)	rs199813223	0.00141
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)	rs199605221	0.00071
NM_001077418.3(TMEM231):c.139+47C>A	rs200063331	0.00029
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)	rs370607340	0.00026
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)	rs201412708	0.00017
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)	rs866563020	0.00015
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)	rs369010440	0.00014
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)	rs372018476	0.00012
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)	rs776470341	0.00008
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)	rs762041003	0.00006
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)	rs563492919	0.00005
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)	rs776287219	0.00005
NC_000016.10:g.75556271T>G	rs964025567	0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	rs200799769	0.00004
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	rs397514753	0.00004
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)	rs373660568	0.00004
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)	rs774528098	0.00003
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)	rs372775075	0.00003
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)	rs1033608835	0.00003
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)	rs566395744	0.00003
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)	rs778407563	0.00003
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)	rs756494100	0.00003
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)	rs1020757759	0.00003
NM_001077418.3(TMEM231):c.-12C>G	rs745498623	0.00002
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)	rs774091057	0.00002
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)	rs775968168	0.00002
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)	rs750897443	0.00002
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)	rs775383043	0.00002
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)	rs1597051521	0.00001
NM_001077418.3(TMEM231):c.438+5G>C	rs1472951348	0.00001
NM_001077418.3(TMEM231):c.438C>T (p.His146=)	rs1358196751	0.00001
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)	rs750935858	0.00001
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)	rs549400559	0.00001
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)	rs543122080	0.00001
NM_001077418.3(TMEM231):c.582+1G>A	rs752141701	0.00001
NM_001077418.3(TMEM231):c.612T>G (p.Phe204Leu)	rs778214389	0.00001
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)	rs192462687	0.00001
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)	rs768632156	0.00001
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)	rs1435643293	0.00001
NM_001077416.2(TMEM231):c.470_474del
NM_001077418.3(TMEM231):c.-17G>T	rs768513169
NM_001077418.3(TMEM231):c.-28G>A
NM_001077418.3(TMEM231):c.-36G>C
NM_001077418.3(TMEM231):c.126C>T (p.Ala42=)
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)	rs397514609
NM_001077418.3(TMEM231):c.139+32C>G
NM_001077418.3(TMEM231):c.13G>C (p.Glu5Gln)
NM_001077418.3(TMEM231):c.149T>C (p.Leu50Pro)
NM_001077418.3(TMEM231):c.16C>A (p.Leu6Ile)
NM_001077418.3(TMEM231):c.17TCT[1] (p.Phe7del)
NM_001077418.3(TMEM231):c.201G>A (p.Val67=)
NM_001077418.3(TMEM231):c.220_222delinsCGT (p.Gly74Arg)
NM_001077418.3(TMEM231):c.235_252dup (p.Ser84_Thr85insGlyPheLeuAlaTrpSer)
NM_001077418.3(TMEM231):c.270C>A (p.Asn90Lys)
NM_001077418.3(TMEM231):c.272G>A (p.Arg91Gln)
NM_001077418.3(TMEM231):c.310-11G>A
NM_001077418.3(TMEM231):c.350T>C (p.Met117Thr)
NM_001077418.3(TMEM231):c.374C>T (p.Pro125Leu)
NM_001077418.3(TMEM231):c.38G>A (p.Arg13His)
NM_001077418.3(TMEM231):c.391C>G (p.His131Asp)
NM_001077418.3(TMEM231):c.394G>A (p.Val132Ile)
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)	rs1415717006
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)	rs761206046
NM_001077418.3(TMEM231):c.469G>A (p.Ala157Thr)
NM_001077418.3(TMEM231):c.511T>C (p.Tyr171His)
NM_001077418.3(TMEM231):c.51G>A (p.Ala17=)
NM_001077418.3(TMEM231):c.531G>T (p.Arg177Ser)
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)	rs760455133
NM_001077418.3(TMEM231):c.54G>A (p.Gly18=)
NM_001077418.3(TMEM231):c.577T>A (p.Tyr193Asn)
NM_001077418.3(TMEM231):c.582+2T>G
NM_001077418.3(TMEM231):c.583A>G (p.Ile195Val)
NM_001077418.3(TMEM231):c.5C>A (p.Ala2Glu)
NM_001077418.3(TMEM231):c.637A>G (p.Ile213Val)
NM_001077418.3(TMEM231):c.665-13G>T
NM_001077418.3(TMEM231):c.671C>T (p.Thr224Ile)
NM_001077418.3(TMEM231):c.677T>G (p.Leu226Arg)
NM_001077418.3(TMEM231):c.689A>C (p.Asn230Thr)
NM_001077418.3(TMEM231):c.693del (p.Ile232fs)
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)	rs1277858041
NM_001077418.3(TMEM231):c.753C>A (p.Tyr251Ter)
NM_001077418.3(TMEM231):c.811G>C (p.Val271Leu)
NM_001077418.3(TMEM231):c.835A>G (p.Ile279Val)
NM_001077418.3(TMEM231):c.83T>G (p.Leu28Arg)
NM_001077418.3(TMEM231):c.90dup (p.Ala31fs)
NM_001077418.3(TMEM231):c.916C>T (p.Pro306Ser)
NM_001077418.3(TMEM231):c.96G>C (p.Ala32=)
NM_001077418.3(TMEM231):c.96_118dup (p.Leu40fs)

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