ClinVar Miner

List of variants in gene SP110 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_231033820)_(231086456_?)dup
NM_004509.4(SP110):c.*204A>T rs76598053
NM_004509.4(SP110):c.*205_*206dup rs1553839905
NM_004509.4(SP110):c.*82G>A rs371157716
NM_004509.4(SP110):c.1037C>T (p.Ser346Leu)
NM_004509.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr) rs1559162086
NM_004509.4(SP110):c.1173G>A (p.Val391=) rs886055764
NM_004509.4(SP110):c.1200C>T (p.Asp400=) rs115361843
NM_004509.4(SP110):c.1256G>A (p.Cys419Tyr)
NM_004509.4(SP110):c.1301T>C (p.Ile434Thr)
NM_004509.4(SP110):c.1315A>G (p.Lys439Glu)
NM_004509.4(SP110):c.1349G>A (p.Gly450Glu)
NM_004509.4(SP110):c.1379A>C (p.His460Pro)
NM_004509.4(SP110):c.1421T>G (p.Ile474Ser) rs1393390517
NM_004509.4(SP110):c.1427A>G (p.Tyr476Cys)
NM_004509.4(SP110):c.1448-6T>G rs201866278
NM_004509.4(SP110):c.1547G>A (p.Arg516Gln)
NM_004509.4(SP110):c.1555C>T (p.Arg519Cys) rs765616523
NM_004509.4(SP110):c.1591-6T>G rs200317062
NM_004509.4(SP110):c.1591C>T (p.Arg531Trp) rs200099412
NM_004509.4(SP110):c.1612G>A (p.Glu538Lys) rs149682257
NM_004509.4(SP110):c.1706+4A>T rs201034113
NM_004509.4(SP110):c.1833G>C (p.Glu611Asp) rs199635684
NM_004509.4(SP110):c.1856T>G (p.Leu619Trp) rs199752332
NM_004509.4(SP110):c.1883C>T (p.Thr628Met)
NM_004509.4(SP110):c.1957-7_1957-6del rs773164340
NM_004509.4(SP110):c.1982T>C (p.Leu661Pro) rs114501363
NM_004509.4(SP110):c.2014A>G (p.Lys672Glu)
NM_004509.4(SP110):c.2020G>A (p.Val674Met)
NM_004509.4(SP110):c.2048G>A (p.Gly683Asp) rs115052010
NM_004509.4(SP110):c.2050G>A (p.Gly684Ser) rs181058279
NM_004509.4(SP110):c.2050G>C (p.Gly684Arg) rs181058279
NM_004509.4(SP110):c.2066C>G (p.Pro689Arg) rs200225863
NM_004509.4(SP110):c.900G>A (p.Gly300=) rs886055765
NM_004509.4(SP110):c.929A>C (p.Lys310Thr) rs200591551
NM_004509.4(SP110):c.934C>G (p.Leu312Val) rs1056828943
NM_004509.4(SP110):c.938A>G (p.Lys313Arg) rs1317519602
NM_004509.4(SP110):c.952G>C (p.Val318Leu)

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.