ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported by Counsyl

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Gene type:
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Total variants: 66
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1962_1964TCC[1] (p.Pro656del) rs780919404
NM_001243766.1(POMGNT1):c.1985+2_1985+5del rs1553162554
NM_001243766.1(POMGNT1):c.2031_2057del (p.Glu678_Leu686del) rs754791169
NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701fs) rs940315351
NM_001243766.1(POMGNT1):c.2195G>A (p.Trp732Ter) rs866924336
NM_001243766.1(POMGNT1):c.2196G>A (p.Trp732Ter) rs764840485
NM_001243766.1(POMGNT1):c.2209del (p.Leu737fs) rs1553162438
NM_001243766.1(POMGNT1):c.2227C>T (p.Gln743Ter) rs769094628
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.3(POMGNT1):c.1027-2_1027-1delAG rs1057516536
NM_017739.3(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) rs1553163360
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.3(POMGNT1):c.1152+2T>C rs1553163335
NM_017739.3(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1340_1344CTGGG[2] (p.Trp451fs) rs386834015
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290
NM_017739.3(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.1539+1del rs1553163077
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.3(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.3(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.3(POMGNT1):c.1605-1G>C rs770219373
NM_017739.3(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) rs1057516903
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.3(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>C rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895+22_1895+23ins22 rs1553162621
NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.3(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247
NM_017739.3(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.653-2A>C rs1553163721
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.3(POMGNT1):c.879+1G>C rs1553163590
NM_017739.3(POMGNT1):c.879+2T>C rs1057516318
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573
NM_017739.3(POMGNT1):c.880-2A>G rs1057516830
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) rs1057516955

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