ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign for not specified

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Total variants: 29
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
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.1510G>A (p.Val504Ile) rs17102066
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.1785+31C>A rs78405727
NM_017739.3(POMGNT1):c.1785+46C>T rs112610756
NM_017739.3(POMGNT1):c.1786-17C>T rs1209878503
NM_017739.3(POMGNT1):c.355-27C>T rs76693406
NM_017739.3(POMGNT1):c.421-13_421-10dup rs772136218
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.534+40C>A rs138588408
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.624C>T (p.Asp208=) rs1553163762
NM_017739.3(POMGNT1):c.652+19A>G rs1475010799
NM_017739.3(POMGNT1):c.652+6G>A rs369289384
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017739.3(POMGNT1):c.861C>T (p.Ile287=) rs764747122
NM_017739.3(POMGNT1):c.880-39G>C rs115804669
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218

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