ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1425G>A (p.Trp475Ter) rs267606961
NM_001243766.1(POMGNT1):c.1478C>G (p.Pro493Arg) rs28942068
NM_001243766.1(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1413+1G>A rs587777821
NM_017739.3(POMGNT1):c.1413+1G>T rs587777821
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) rs886037948
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.1719delC (p.His573Glnfs) rs386834017
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1832del (p.Leu611Argfs) rs587777822
NM_017739.3(POMGNT1):c.1876delG (p.Val626Serfs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.359T>G (p.Leu120Arg) rs886037949
NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) rs886037947
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336

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