ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1752_1754TGA[1] (p.Asp586del) rs777715386
NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
NM_017739.3(POMGNT1):c.1015G>T (p.Gly339Cys) rs1553163451
NM_017739.3(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) rs886042244
NM_017739.3(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.3(POMGNT1):c.1111-6T>C rs751751349
NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) rs886044094
NM_017739.3(POMGNT1):c.1151C>G (p.Pro384Arg)
NM_017739.3(POMGNT1):c.1153-8C>T rs1557672738
NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) rs183698543
NM_017739.3(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978
NM_017739.3(POMGNT1):c.1220G>A (p.Ser407Asn) rs749285030
NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.3(POMGNT1):c.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) rs886043965
NM_017739.3(POMGNT1):c.1406C>T (p.Pro469Leu)
NM_017739.3(POMGNT1):c.1438C>T (p.Arg480Trp)
NM_017739.3(POMGNT1):c.1454G>A (p.Arg485His) rs544816408
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.3(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030
NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.3(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.3(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.3(POMGNT1):c.1476C>A (p.Ile492=) rs375432782
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1532A>G (p.Tyr511Cys) rs1038054957
NM_017739.3(POMGNT1):c.1536T>C (p.Phe512=) rs367596859
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539C>T (p.His513=) rs569297597
NM_017739.3(POMGNT1):c.1558C>T (p.His520Tyr) rs1557670301
NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) rs200730202
NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) rs747147491
NM_017739.3(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.3(POMGNT1):c.1732T>C (p.Phe578Leu) rs1553162740
NM_017739.3(POMGNT1):c.1738C>A (p.Arg580=) rs386834018
NM_017739.3(POMGNT1):c.1786-6C>T rs202028128
NM_017739.3(POMGNT1):c.1786-9C>T
NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567
NM_017739.3(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350
NM_017739.3(POMGNT1):c.1831C>T (p.Leu611=) rs367848204
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585
NM_017739.3(POMGNT1):c.1867= (p.Val623=) rs6659553
NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) rs747815387
NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) rs886043958
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074
NM_017739.3(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320
NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450
NM_017739.3(POMGNT1):c.355-9A>G rs886042396
NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) rs373016708
NM_017739.3(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918
NM_017739.3(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_017739.3(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796
NM_017739.3(POMGNT1):c.420+5G>T rs1557677090
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.426C>T (p.His142=) rs374384310
NM_017739.3(POMGNT1):c.427G>A (p.Val143Met)
NM_017739.3(POMGNT1):c.444G>A (p.Val148=) rs142016718
NM_017739.3(POMGNT1):c.452C>T (p.Thr151Met) rs886044363
NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) rs146121135
NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) rs886043030
NM_017739.3(POMGNT1):c.477dup (p.Met160fs) rs1553163920
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_017739.3(POMGNT1):c.503C>T (p.Ala168Val) rs200643988
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) rs140724142
NM_017739.3(POMGNT1):c.561C>G (p.Asp187Glu) rs886042638
NM_017739.3(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_017739.3(POMGNT1):c.652+6G>A rs369289384
NM_017739.3(POMGNT1):c.652+8C>T rs778376741
NM_017739.3(POMGNT1):c.664G>A (p.Gly222Arg) rs146965084
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017739.3(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.3(POMGNT1):c.751+4G>C
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) rs886043972
NM_017739.3(POMGNT1):c.788G>A (p.Arg263His) rs146078296
NM_017739.3(POMGNT1):c.797G>A (p.Arg266Gln) rs1040105441
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_017739.3(POMGNT1):c.880-4A>C rs1553163534
NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218

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