ClinVar Miner

List of variants in gene PRX reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln) rs146222815 0.00019
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr) rs145790961 0.00004
NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu) rs369949312 0.00004
NM_181882.3(PRX):c.847G>A (p.Val283Met) rs535087433 0.00003
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu) rs371887816 0.00002
NM_181882.3(PRX):c.1441G>T (p.Val481Leu) rs747179548 0.00001
NM_181882.3(PRX):c.3440C>T (p.Pro1147Leu) rs748957380 0.00001
NM_181882.3(PRX):c.164G>A (p.Arg55Lys) rs773586301
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg) rs111252437
NM_181882.3(PRX):c.3106G>A (p.Ala1036Thr) rs1599651692
NM_181882.3(PRX):c.3558G>C (p.Gln1186His)
NM_181882.3(PRX):c.3766G>C (p.Val1256Leu) rs1599650451
NM_181882.3(PRX):c.381+24_381+39dup

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