ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1173T>C (p.Val391=) rs142739678
NM_017739.3(POMGNT1):c.1212-4T>G rs778941358
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
NM_017739.3(POMGNT1):c.1284+8G>A rs761259999
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.1463G>A (p.Arg488Gln) rs766382416
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1540-16C>T rs10493123
NM_017739.3(POMGNT1):c.1560C>T (p.His520=) rs1057521878
NM_017739.3(POMGNT1):c.1569C>T (p.Asn523=) rs1057523859
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1786-17C>T rs1209878503
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_017739.3(POMGNT1):c.421-13_421-10dupTATC rs772136218
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) rs146121135
NM_017739.3(POMGNT1):c.507C>T (p.Pro169=) rs576860809
NM_017739.3(POMGNT1):c.534+15C>T rs141676863
NM_017739.3(POMGNT1):c.535-14C>G rs778926136
NM_017739.3(POMGNT1):c.535-7C>T rs375913574
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) rs140724142
NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416
NM_017739.3(POMGNT1):c.624C>T (p.Asp208=) rs1553163762
NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) rs190057175
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+19A>G rs1475010799
NM_017739.3(POMGNT1):c.652+6G>A rs369289384
NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_017739.3(POMGNT1):c.861C>T (p.Ile287=) rs764747122
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218
NM_017739.3(POMGNT1):c.991C>T (p.Gln331Ter)

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