ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NC_000001.11:g.(?_46190463)_(46190794_?)del
NM_001243766.1(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_001243766.1(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) rs1553163360
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001243766.1(POMGNT1):c.1335del (p.Met446fs) rs1553163206
NM_001243766.1(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_001243766.1(POMGNT1):c.1539+1G>A rs138642840
NM_001243766.1(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_001243766.1(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_001243766.1(POMGNT1):c.1869+27G>A rs386834024
NM_001243766.1(POMGNT1):c.1869+27G>T rs386834024
NM_001243766.1(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_001243766.1(POMGNT1):c.636C>T (p.Phe212=) rs190057175
NM_001243766.1(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_001243766.1(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)

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