ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance

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Total variants: 137
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HGVS dbSNP
NC_000001.11:g.(?_46188699)_(46197841_?)dup
NM_001243766.1(POMGNT1):c.1015G>T (p.Gly339Cys) rs1553163451
NM_001243766.1(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_001243766.1(POMGNT1):c.1111-6T>C rs751751349
NM_001243766.1(POMGNT1):c.1151C>G (p.Pro384Arg)
NM_001243766.1(POMGNT1):c.1153-8C>T
NM_001243766.1(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978
NM_001243766.1(POMGNT1):c.1220G>A (p.Ser407Asn) rs749285030
NM_001243766.1(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_001243766.1(POMGNT1):c.1287G>C (p.Gly429=)
NM_001243766.1(POMGNT1):c.1406C>T (p.Pro469Leu)
NM_001243766.1(POMGNT1):c.1438C>T (p.Arg480Trp)
NM_001243766.1(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_001243766.1(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_001243766.1(POMGNT1):c.1476C>A (p.Ile492=) rs375432782
NM_001243766.1(POMGNT1):c.1532A>G (p.Tyr511Cys) rs1038054957
NM_001243766.1(POMGNT1):c.1536T>C (p.Phe512=) rs367596859
NM_001243766.1(POMGNT1):c.1558C>T (p.His520Tyr)
NM_001243766.1(POMGNT1):c.1588C>G (p.Leu530Val)
NM_001243766.1(POMGNT1):c.1596T>C (p.Asn532=) rs200730202
NM_001243766.1(POMGNT1):c.1650-4G>A
NM_001243766.1(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_001243766.1(POMGNT1):c.1732T>C (p.Phe578Leu) rs1553162740
NM_001243766.1(POMGNT1):c.1738C>A (p.Arg580=) rs386834018
NM_001243766.1(POMGNT1):c.1786-6C>T rs202028128
NM_001243766.1(POMGNT1):c.1786-9C>T
NM_001243766.1(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567
NM_001243766.1(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350
NM_001243766.1(POMGNT1):c.1831C>T (p.Leu611=) rs367848204
NM_001243766.1(POMGNT1):c.1907G>C (p.Gly636Ala) rs778115320
NM_001243766.1(POMGNT1):c.1940_1948dup (p.Arg649_Thr650insSerProArg) rs1553162587
NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701Glyfs) rs940315351
NM_001243766.1(POMGNT1):c.358C>G (p.Leu120Val) rs373016708
NM_001243766.1(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_001243766.1(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796
NM_001243766.1(POMGNT1):c.420+5G>T
NM_001243766.1(POMGNT1):c.427G>A (p.Val143Met)
NM_001243766.1(POMGNT1):c.452C>T (p.Thr151Met) rs886044363
NM_001243766.1(POMGNT1):c.503C>T (p.Ala168Val) rs200643988
NM_001243766.1(POMGNT1):c.512_517dup (p.Val172_Leu173insArgVal) rs1553163909
NM_001243766.1(POMGNT1):c.561C>G (p.Asp187Glu) rs886042638
NM_001243766.1(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_001243766.1(POMGNT1):c.664G>A (p.Gly222Arg) rs146965084
NM_001243766.1(POMGNT1):c.751+4G>C
NM_001243766.1(POMGNT1):c.788G>A (p.Arg263His) rs146078296
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001243766.1(POMGNT1):c.880-4A>C rs1553163534
NM_001243766.1(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994
NM_017739.3(POMGNT1):c.*30_*33delTACT rs1553162554
NM_017739.3(POMGNT1):c.*335_*361del27 rs754791169
NM_017739.3(POMGNT1):c.*451C>T rs148903585
NM_017739.3(POMGNT1):c.*499G>A rs866924336
NM_017739.3(POMGNT1):c.*500G>A rs764840485
NM_017739.3(POMGNT1):c.*513delC rs1553162438
NM_017739.3(POMGNT1):c.*531C>T rs769094628
NM_017739.3(POMGNT1):c.*8_*10delTCC rs780919404
NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
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.1091A>G (p.Lys364Arg)
NM_017739.3(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536
NM_017739.3(POMGNT1):c.1101C>T (p.Arg367=) rs775495503
NM_017739.3(POMGNT1):c.1110+9T>C rs1553163359
NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) rs886044094
NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775
NM_017739.3(POMGNT1):c.1152G>A (p.Pro384=) rs760312462
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.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1285-6C>T rs377292905
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) rs886043965
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.1464A>G (p.Arg488=) rs1157887321
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.1513G>A (p.Gly505Ser) rs760705290
NM_017739.3(POMGNT1):c.1539C>T (p.His513=) rs569297597
NM_017739.3(POMGNT1):c.1540-6C>T rs770449394
NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) rs747147491
NM_017739.3(POMGNT1):c.1697T>C (p.Phe566Ser)
NM_017739.3(POMGNT1):c.1755_1757delTGA (p.Asp586del) rs777715386
NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896
NM_017739.3(POMGNT1):c.1842_1844delGTT (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1854_1856delGAA (p.Lys618del)
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
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.1924A>G (p.Ile642Val) rs757749808
NM_017739.3(POMGNT1):c.1924A>T (p.Ile642Phe)
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450
NM_017739.3(POMGNT1):c.355-3T>G rs1553163972
NM_017739.3(POMGNT1):c.355-9A>G rs886042396
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_017739.3(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918
NM_017739.3(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782
NM_017739.3(POMGNT1):c.419C>T (p.Thr140Met)
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.426C>T (p.His142=) rs374384310
NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) rs776165339
NM_017739.3(POMGNT1):c.444G>A (p.Val148=) rs142016718
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.486A>G (p.Leu162=) rs138330966
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) rs140724142
NM_017739.3(POMGNT1):c.550C>T (p.His184Tyr) rs746638187
NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416
NM_017739.3(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053
NM_017739.3(POMGNT1):c.652+6G>A rs369289384
NM_017739.3(POMGNT1):c.652+8C>T rs778376741
NM_017739.3(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.3(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665
NM_017739.3(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.3(POMGNT1):c.751+1G>A
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp)
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) rs886043972
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.3(POMGNT1):c.797G>A (p.Arg266Gln) rs1040105441
NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888
NM_017739.3(POMGNT1):c.821G>A (p.Gly274Asp)
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_017739.3(POMGNT1):c.908C>T (p.Pro303Leu)
NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515
NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218
NM_017739.3:c.927delG

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