ClinVar Miner

List of variants studied for autosomal recessive disease by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1390+2del rs386833843 0.00043
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) rs386834004 0.00001
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008 0.00001
NM_018965.4(TREM2):c.313del (p.Ala105fs) rs386834141 0.00001
NM_018965.4(TREM2):c.482+2T>C rs386834144 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn) rs386833839
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg) rs386833841
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter) rs386833842
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs) rs386833846
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs) rs386833847
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter) rs386833853
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs) rs386833854
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) rs386833999
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.2212del (p.Glu738fs) rs386833416
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.810-1G>A rs386834006
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) rs386834009
NM_018965.4(TREM2):c.269del (p.Gly90fs) rs386834140
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147

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.