ClinVar Miner

List of variants in gene SPEG reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His) rs55876679 0.00144
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser) rs200066956 0.00118
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00064
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu) rs747464249 0.00036
NM_005876.5(SPEG):c.1915C>T (p.Arg639Cys) rs774057125 0.00014
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005876.5(SPEG):c.341G>C (p.Arg114Pro) rs751671030 0.00006
NM_005876.5(SPEG):c.3730C>T (p.Arg1244Cys) rs770645696 0.00005
NM_005876.5(SPEG):c.4405C>T (p.Arg1469Cys) rs748200228 0.00005
NM_005876.5(SPEG):c.2287C>T (p.Arg763Cys) rs767356198 0.00003
NM_005876.5(SPEG):c.3616A>G (p.Met1206Val) rs764257690 0.00003
NM_005876.5(SPEG):c.5023G>C (p.Glu1675Gln) rs758577613 0.00003
NM_005876.5(SPEG):c.3064C>T (p.Arg1022Cys) rs747641930 0.00002
NM_005876.5(SPEG):c.275G>T (p.Cys92Phe) rs941657395 0.00001
NM_005876.5(SPEG):c.5102G>A (p.Arg1701Gln) rs780393309 0.00001
NM_005876.5(SPEG):c.1567C>T (p.Arg523Cys) rs1689509296
NM_005876.5(SPEG):c.3272C>T (p.Pro1091Leu) rs1383792209
NM_005876.5(SPEG):c.3596T>G (p.Val1199Gly) rs1575123096
NM_005876.5(SPEG):c.5371C>G (p.Leu1791Val) rs1553616554

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