ClinVar Miner

List of variants studied for Jalili syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_020184.4(CNNM4):c.*1045T>C rs886056480
NM_020184.4(CNNM4):c.*1056C>T rs183039738
NM_020184.4(CNNM4):c.*1059T>C
NM_020184.4(CNNM4):c.*1126G>A
NM_020184.4(CNNM4):c.*1158C>T rs760774484
NM_020184.4(CNNM4):c.*1244C>T rs7565577
NM_020184.4(CNNM4):c.*1362G>A rs561958044
NM_020184.4(CNNM4):c.*1430G>A
NM_020184.4(CNNM4):c.*1482C>T rs10172803
NM_020184.4(CNNM4):c.*1516C>T rs116742732
NM_020184.4(CNNM4):c.*1517G>A rs538345373
NM_020184.4(CNNM4):c.*1565C>T rs886056481
NM_020184.4(CNNM4):c.*1693G>A rs77892978
NM_020184.4(CNNM4):c.*1754G>A rs886056482
NM_020184.4(CNNM4):c.*1836C>T
NM_020184.4(CNNM4):c.*189G>T
NM_020184.4(CNNM4):c.*1924G>T
NM_020184.4(CNNM4):c.*1937G>A rs886056483
NM_020184.4(CNNM4):c.*1974C>T rs538676167
NM_020184.4(CNNM4):c.*1990T>A rs7585552
NM_020184.4(CNNM4):c.*203del rs562289410
NM_020184.4(CNNM4):c.*204G>T
NM_020184.4(CNNM4):c.*2120C>T rs12846
NM_020184.4(CNNM4):c.*2121G>A
NM_020184.4(CNNM4):c.*2256_*2258GTT[1] rs886056484
NM_020184.4(CNNM4):c.*252G>C
NM_020184.4(CNNM4):c.*286A>T
NM_020184.4(CNNM4):c.*364A>G rs886056476
NM_020184.4(CNNM4):c.*459_*461TCC[6] rs202044868
NM_020184.4(CNNM4):c.*475C>T rs886056478
NM_020184.4(CNNM4):c.*479C>T
NM_020184.4(CNNM4):c.*560T>C rs74411759
NM_020184.4(CNNM4):c.*637T>C
NM_020184.4(CNNM4):c.*753G>A
NM_020184.4(CNNM4):c.*91C>T rs7581456
NM_020184.4(CNNM4):c.*924G>A rs886056479
NM_020184.4(CNNM4):c.*95T>C rs138947618
NM_020184.4(CNNM4):c.*965A>G rs3731941
NM_020184.4(CNNM4):c.-14A>C rs545205153
NM_020184.4(CNNM4):c.-90C>T rs886056470
NM_020184.4(CNNM4):c.1045G>A (p.Glu349Lys)
NM_020184.4(CNNM4):c.1274A>C (p.Lys425Thr)
NM_020184.4(CNNM4):c.1312C>G (p.Leu438Val)
NM_020184.4(CNNM4):c.1326T>G (p.Thr442=) rs761775711
NM_020184.4(CNNM4):c.135G>A (p.Thr45=) rs886056473
NM_020184.4(CNNM4):c.1422C>T (p.Ile474=)
NM_020184.4(CNNM4):c.1461C>T (p.Phe487=) rs147804021
NM_020184.4(CNNM4):c.1474G>A (p.Gly492Ser) rs886056475
NM_020184.4(CNNM4):c.1500C>T (p.Ile500=)
NM_020184.4(CNNM4):c.1518G>A (p.Ser506=)
NM_020184.4(CNNM4):c.1541T>C (p.Met514Thr) rs140192152
NM_020184.4(CNNM4):c.1568G>A (p.Arg523Gln)
NM_020184.4(CNNM4):c.1614G>T (p.Ala538=) rs777167557
NM_020184.4(CNNM4):c.1669T>C (p.Phe557Leu)
NM_020184.4(CNNM4):c.1779C>G (p.His593Gln)
NM_020184.4(CNNM4):c.1792G>A (p.Ala598Thr)
NM_020184.4(CNNM4):c.1821G>A (p.Lys607=)
NM_020184.4(CNNM4):c.1824G>A (p.Pro608=) rs36121810
NM_020184.4(CNNM4):c.1851+9G>A rs185433115
NM_020184.4(CNNM4):c.1899G>A (p.Thr633=) rs753028867
NM_020184.4(CNNM4):c.1902C>T (p.Gly634=)
NM_020184.4(CNNM4):c.1942C>T (p.Pro648Ser) rs144495984
NM_020184.4(CNNM4):c.1947C>T (p.Ser649=) rs41286594
NM_020184.4(CNNM4):c.1951C>T (p.Arg651Cys)
NM_020184.4(CNNM4):c.1956C>T (p.Ser652=)
NM_020184.4(CNNM4):c.2130+5G>A rs200517269
NM_020184.4(CNNM4):c.2137C>T (p.Arg713Trp) rs552453867
NM_020184.4(CNNM4):c.2154C>T (p.Asn718=) rs138445233
NM_020184.4(CNNM4):c.2171G>A (p.Arg724His)
NM_020184.4(CNNM4):c.2218A>G (p.Met740Val) rs201290867
NM_020184.4(CNNM4):c.2255T>G (p.Val752Gly) rs200775112
NM_020184.4(CNNM4):c.2296C>G (p.Leu766Val)
NM_020184.4(CNNM4):c.243C>T (p.Tyr81=) rs886056474
NM_020184.4(CNNM4):c.253A>G (p.Asn85Asp) rs138690324
NM_020184.4(CNNM4):c.283G>C (p.Glu95Gln)
NM_020184.4(CNNM4):c.399G>A (p.Val133=) rs34147094
NM_020184.4(CNNM4):c.411G>A (p.Lys137=)
NM_020184.4(CNNM4):c.434T>C (p.Met145Thr) rs148129550
NM_020184.4(CNNM4):c.445G>T (p.Ala149Ser)
NM_020184.4(CNNM4):c.556A>G (p.Ile186Val) rs146760430
NM_020184.4(CNNM4):c.591C>T (p.Gly197=) rs35633391
NM_020184.4(CNNM4):c.61C>G (p.Leu21Val) rs886056471
NM_020184.4(CNNM4):c.788A>G (p.Asn263Ser) rs150269409
NM_020184.4(CNNM4):c.78G>A (p.Leu26=) rs886056472
NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg) rs760633483

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