ClinVar Miner

List of variants in gene PRX reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NC_000019.9:g.(?_40909593)_(40909789_?)del
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_181882.2(PRX):c.1012del (p.Ala338fs) rs1555801290
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1173del (p.Arg392fs)
NM_181882.2(PRX):c.1390C>T (p.Arg464Ter)
NM_181882.2(PRX):c.1864C>T (p.Gln622Ter)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.2689C>T (p.Arg897Ter)
NM_181882.2(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.2(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.2(PRX):c.627del (p.Ala210fs)
NM_181882.2(PRX):c.979del (p.Asp327fs) rs1568708792
PRX, 10-BP INS, NT394
PRX, 4-BP DEL, 1194TTCC

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