ClinVar Miner

List of variants studied for Jeune syndrome by Baylor Genetics

Included ClinVar conditions (45):
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ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576 0.00172
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296 0.00076
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser) rs150551872 0.00005
NM_024600.6(TMEM204):c.539C>T (p.Thr180Met) rs369025963 0.00004
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693 0.00002
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) rs773156346 0.00001
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His) rs765205496 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001377.3(DYNC2H1):c.11048C>T (p.Pro3683Leu) rs1297881996 0.00001
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) rs772321133 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_024753.5(TTC21B):c.3460-3T>C rs754665883 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001375405.1(CEP120):c.2740G>A (p.Glu914Lys) rs1768853529
NM_001375405.1(CEP120):c.762del (p.Ser254fs) rs1772529903
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg) rs1860951602
NM_001377.3(DYNC2H1):c.4360C>A (p.Leu1454Met)
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val) rs1858012761
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe) rs1858493502
NM_014055.4(IFT81):c.1717-2A>G rs1868517084
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp) rs537004785
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp) rs1717255624
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr) rs750392808
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro) rs1729675412
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.493A>G (p.Ser165Gly) rs1259803475

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