ClinVar Miner

List of variants reported as benign for Erythrokeratodermia variabilis et progressiva 1 by Illumina Laboratory Services, Illumina

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_024009.3(GJB3):c.*53G>A rs476220 0.49114
NM_024009.3(GJB3):c.*369G>C rs2236214 0.23276
NM_024009.3(GJB3):c.*559G>C rs9118 0.19529
NM_024009.3(GJB3):c.*43C>A rs41266429 0.11622
NM_024009.3(GJB3):c.*493C>T rs13774 0.09992
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_024009.3(GJB3):c.*626C>G rs74567877 0.00575
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_024009.3(GJB3):c.*218C>A rs78145978 0.00481
NM_024009.3(GJB3):c.-407C>T rs547065589 0.00364
NM_024009.3(GJB3):c.*13G>A rs368929234 0.00020
NM_024009.3(GJB3):c.*434G>A rs567318744 0.00018
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00014
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_024009.3(GJB3):c.-40G>A rs559520550 0.00010
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_024009.3(GJB3):c.61G>A (p.Gly21Arg) rs749654470 0.00004
NM_024009.3(GJB3):c.647G>A (p.Arg216Gln) rs751280813 0.00004
NM_024009.3(GJB3):c.186C>T (p.Asn62=) rs373186826 0.00003
NM_024009.3(GJB3):c.-3G>A rs200397530 0.00001
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020

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