ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type IA

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
NC_000017.10:g.(?_15133094)_(15164078_?)dup
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000017.11:g.15133096_15164093dup
NC_012920.1:m.9185T>C rs199476138
NM_000304.4(PMP22):c.102C>A (p.His34Gln) rs779654897
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.206T>A (p.Met69Lys) rs104894620
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.35A>G (p.His12Arg) rs1909248652
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
Single allele

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