ClinVar Miner

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

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Total variants: 41
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HGVS dbSNP
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NM_017739.3(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
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.1152G>A (p.Pro384=) rs760312462
NM_017739.3(POMGNT1):c.1160A>G (p.Lys387Arg)
NM_017739.3(POMGNT1):c.1198G>C (p.Val400Leu)
NM_017739.3(POMGNT1):c.1285-6C>T rs377292905
NM_017739.3(POMGNT1):c.1338G>A (p.Met446Ile)
NM_017739.3(POMGNT1):c.1454G>A (p.Arg485His) rs544816408
NM_017739.3(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030
NM_017739.3(POMGNT1):c.1539C>T (p.His513=) rs569297597
NM_017739.3(POMGNT1):c.1561A>G (p.Lys521Glu)
NM_017739.3(POMGNT1):c.1669C>A (p.His557Asn)
NM_017739.3(POMGNT1):c.1693T>A (p.Ser565Thr)
NM_017739.3(POMGNT1):c.1697T>C (p.Phe566Ser)
NM_017739.3(POMGNT1):c.1721C>T (p.Thr574Ile)
NM_017739.3(POMGNT1):c.1752_1754TGA[1] (p.Asp586del) rs777715386
NM_017739.3(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350
NM_017739.3(POMGNT1):c.1848_1850GAA[2] (p.Lys618del) rs1435566919
NM_017739.3(POMGNT1):c.1876G>A (p.Val626Ile)
NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169
NM_017739.3(POMGNT1):c.1910C>T (p.Pro637Leu)
NM_017739.3(POMGNT1):c.1919C>T (p.Thr640Ile)
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074
NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_017739.3(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918
NM_017739.3(POMGNT1):c.419C>T (p.Thr140Met)
NM_017739.3(POMGNT1):c.439C>T (p.Arg147Cys)
NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) rs776165339
NM_017739.3(POMGNT1):c.550C>T (p.His184Tyr) rs746638187
NM_017739.3(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053
NM_017739.3(POMGNT1):c.626C>T (p.Thr209Ile)
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.706G>C (p.Asp236His) rs201525710
NM_017739.3(POMGNT1):c.788G>A (p.Arg263His) rs146078296
NM_017739.3(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_017739.3(POMGNT1):c.908C>T (p.Pro303Leu)

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