ClinVar Miner

List of variants reported as benign by Inherited Neuropathy Consortium

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.2784+54G>A rs4378405 0.26445
NM_022041.4(GAN):c.1086+71C>T rs12448327 0.18756
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_006158.5(NEFL):c.423G>A (p.Gln141=) rs59161567 0.00012
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_006158.5(NEFL):c.720C>T (p.Tyr240=) rs58975336 0.00001
NM_006158.5(NEFL):c.192G>A (p.Leu64=) rs1586129038
NM_016156.6(MTMR2):c.1233G>T (p.Thr411=) rs113897932
NM_016156.6(MTMR2):c.8= (p.Lys3=) rs3824874

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