ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00017
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=) rs367596859 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.426C>T (p.His142=) rs374384310 0.00011
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00011
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515 0.00009
NM_017739.4(POMGNT1):c.1111-6T>C rs751751349 0.00006
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.444G>A (p.Val148=) rs142016718 0.00003
NM_017739.4(POMGNT1):c.652+8C>T rs778376741 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=) rs886042244 0.00002
NM_017739.4(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1151C>G (p.Pro384Arg) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=) rs183698543 0.00001
NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453 0.00001
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1645C>T (p.Leu549Phe) rs747147491 0.00001
NM_017739.4(POMGNT1):c.1786-9C>T rs961913683 0.00001
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567 0.00001
NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=) rs886043958 0.00001
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val) rs373016708 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796 0.00001
NM_017739.4(POMGNT1):c.452C>T (p.Thr151Met) rs886044363 0.00001
NM_017739.4(POMGNT1):c.503C>T (p.Ala168Val) rs200643988 0.00001
NM_017739.4(POMGNT1):c.561C>G (p.Asp187Glu) rs886042638 0.00001
NM_017739.4(POMGNT1):c.664G>A (p.Gly222Arg) rs146965084 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.758A>T (p.Glu253Val) rs886043972 0.00001
NM_017739.4(POMGNT1):c.797G>A (p.Arg266Gln) rs1040105441 0.00001
NM_017739.4(POMGNT1):c.880-4A>C rs1553163534 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_017739.4(POMGNT1):c.1015G>T (p.Gly339Cys) rs1553163451
NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_017739.4(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.4(POMGNT1):c.1139T>C (p.Phe380Ser) rs886044094
NM_017739.4(POMGNT1):c.1153-8C>T rs1557672738
NM_017739.4(POMGNT1):c.1220G>A (p.Ser407Asn) rs749285030
NM_017739.4(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.4(POMGNT1):c.1379A>C (p.Glu460Ala) rs886043965
NM_017739.4(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.4(POMGNT1):c.1532A>G (p.Tyr511Cys) rs1038054957
NM_017739.4(POMGNT1):c.1558C>T (p.His520Tyr) rs1557670301
NM_017739.4(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.4(POMGNT1):c.1732T>C (p.Phe578Leu) rs1553162740
NM_017739.4(POMGNT1):c.1752TGA[1] (p.Asp586del) rs777715386
NM_017739.4(POMGNT1):c.1911C>T (p.Pro637=) rs747815387
NM_017739.4(POMGNT1):c.355-9A>G rs886042396
NM_017739.4(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_017739.4(POMGNT1):c.420+5G>T rs1557677090
NM_017739.4(POMGNT1):c.461C>T (p.Pro154Leu) rs886043030
NM_017739.4(POMGNT1):c.477dup (p.Met160fs) rs1553163920
NM_017739.4(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710

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.