ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance for Muscle eye brain disease

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Total variants: 18
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HGVS dbSNP
NM_001243766.1(POMGNT1):c.1940_1948dup (p.Arg649_Thr650insSerProArg) rs1553162587
NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701Glyfs) rs940315351
NM_001243766.1(POMGNT1):c.512_517dup (p.Val172_Leu173insArgVal) rs1553163909
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_017739.3(POMGNT1):c.*30_*33delTACT rs1553162554
NM_017739.3(POMGNT1):c.*335_*361del27 rs754791169
NM_017739.3(POMGNT1):c.*499G>A rs866924336
NM_017739.3(POMGNT1):c.*500G>A rs764840485
NM_017739.3(POMGNT1):c.*513delC rs1553162438
NM_017739.3(POMGNT1):c.*531C>T rs769094628
NM_017739.3(POMGNT1):c.*8_*10delTCC rs780919404
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290
NM_017739.3(POMGNT1):c.1842_1844delGTT (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp)
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010

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