ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) rs148150960 0.00031
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala) rs782205353 0.00001
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) rs1009967374 0.00001
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) rs1553242966 0.00001
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) rs1205547665 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) rs1716385543
NM_001172509.2(SATB2):c.700+17G>A rs1689356095
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu) rs1574645369
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser) rs1482351235
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) rs1681469923
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) rs1681472341
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs) rs1891151702
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) rs1711880083
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu) rs1762710997
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr) rs2095343853
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe) rs1319472971
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) rs1756273326
NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala) rs1184373480
NM_030665.4(RAI1):c.619A>T (p.Thr207Ser) rs1434136369

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.