ClinVar Miner

List of variants reported as uncertain significance for Jalili syndrome

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_020184.4(CNNM4):c.*1126G>A rs141670657 0.00217
NM_020184.4(CNNM4):c.*1430G>A rs549999969 0.00183
NM_020184.4(CNNM4):c.*1362G>A rs561958044 0.00164
NM_020184.4(CNNM4):c.*203del rs562289410 0.00093
NM_020184.4(CNNM4):c.1500C>T (p.Ile500=) rs144915228 0.00056
NM_020184.4(CNNM4):c.788A>G (p.Asn263Ser) rs150269409 0.00054
NM_020184.4(CNNM4):c.591C>T (p.Gly197=) rs35633391 0.00045
NM_020184.4(CNNM4):c.1942C>T (p.Pro648Ser) rs144495984 0.00030
NM_020184.4(CNNM4):c.253A>G (p.Asn85Asp) rs138690324 0.00029
NM_020184.4(CNNM4):c.*286A>T rs532504125 0.00027
NM_020184.4(CNNM4):c.556A>G (p.Ile186Val) rs146760430 0.00025
NM_020184.4(CNNM4):c.2130+5G>A rs200517269 0.00024
NM_020184.4(CNNM4):c.1792G>A (p.Ala598Thr) rs201310811 0.00021
NM_020184.4(CNNM4):c.2154C>T (p.Asn718=) rs138445233 0.00019
NM_020184.4(CNNM4):c.2255T>G (p.Val752Gly) rs200775112 0.00019
NM_020184.4(CNNM4):c.*924G>A rs886056479 0.00014
NM_020184.4(CNNM4):c.1956C>T (p.Ser652=) rs149656750 0.00010
NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg) rs760633483 0.00010
NM_020184.4(CNNM4):c.1899G>A (p.Thr633=) rs753028867 0.00008
NM_020184.4(CNNM4):c.*1517G>A rs538345373 0.00006
NM_020184.4(CNNM4):c.*1565C>T rs886056481 0.00006
NM_020184.4(CNNM4):c.*364A>G rs886056476 0.00006
NM_020184.4(CNNM4):c.1274A>C (p.Lys425Thr) rs778131831 0.00005
NM_020184.4(CNNM4):c.*189G>T rs1269949616 0.00004
NM_020184.4(CNNM4):c.1312C>G (p.Leu438Val) rs774130429 0.00004
NM_020184.4(CNNM4):c.1568G>A (p.Arg523Gln) rs750374054 0.00004
NM_020184.4(CNNM4):c.411G>A (p.Lys137=) rs758539045 0.00004
NM_020184.4(CNNM4):c.*1937G>A rs886056483 0.00003
NM_020184.4(CNNM4):c.*479C>T rs1446736662 0.00003
NM_020184.4(CNNM4):c.*1059T>C rs139799133 0.00002
NM_020184.4(CNNM4):c.*1158C>T rs760774484 0.00002
NM_020184.4(CNNM4):c.1518G>A (p.Ser506=) rs369283007 0.00002
NM_020184.4(CNNM4):c.1821G>A (p.Lys607=) rs200000984 0.00002
NM_020184.4(CNNM4):c.2137C>T (p.Arg713Trp) rs552453867 0.00002
NM_020184.4(CNNM4):c.*1924G>T rs1260763419 0.00001
NM_020184.4(CNNM4):c.*753G>A rs79109340 0.00001
NM_020184.4(CNNM4):c.1326T>G (p.Thr442=) rs761775711 0.00001
NM_020184.4(CNNM4):c.1422C>T (p.Ile474=) rs766518199 0.00001
NM_020184.4(CNNM4):c.2218A>G (p.Met740Val) rs201290867 0.00001
NM_020184.4(CNNM4):c.243C>T (p.Tyr81=) rs886056474 0.00001
NM_020184.4(CNNM4):c.283G>C (p.Glu95Gln) rs1320684566 0.00001
NM_020184.4(CNNM4):c.61C>G (p.Leu21Val) rs886056471 0.00001
NM_020184.4(CNNM4):c.*1045T>C rs886056480
NM_020184.4(CNNM4):c.*1754G>A rs886056482
NM_020184.4(CNNM4):c.*1836C>T rs2079256427
NM_020184.4(CNNM4):c.*204G>T rs2079241228
NM_020184.4(CNNM4):c.*2121G>A rs566822382
NM_020184.4(CNNM4):c.*2256GTT[1] rs886056484
NM_020184.4(CNNM4):c.*252G>C rs778510289
NM_020184.4(CNNM4):c.*475C>T rs886056478
NM_020184.4(CNNM4):c.*637T>C rs2079245005
NM_020184.4(CNNM4):c.-90C>T rs886056470
NM_020184.4(CNNM4):c.1045G>A (p.Glu349Lys) rs2078769353
NM_020184.4(CNNM4):c.135G>A (p.Thr45=) rs886056473
NM_020184.4(CNNM4):c.1474G>A (p.Gly492Ser) rs886056475
NM_020184.4(CNNM4):c.1614G>T (p.Ala538=) rs777167557
NM_020184.4(CNNM4):c.1669T>C (p.Phe557Leu) rs1163207281
NM_020184.4(CNNM4):c.1779C>G (p.His593Gln) rs1350824280
NM_020184.4(CNNM4):c.1902C>T (p.Gly634=) rs200110847
NM_020184.4(CNNM4):c.1951C>T (p.Arg651Cys) rs756301978
NM_020184.4(CNNM4):c.2171G>A (p.Arg724His) rs771341175
NM_020184.4(CNNM4):c.2296C>G (p.Leu766Val) rs2079238946
NM_020184.4(CNNM4):c.445G>T (p.Ala149Ser) rs1416575882
NM_020184.4(CNNM4):c.636_637insATGCTGGACCCCATG (p.Met212_Glu213insMetLeuAspProMet) rs2153341664
NM_020184.4(CNNM4):c.78G>A (p.Leu26=) rs886056472

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