ClinVar Miner

List of variants in gene NEFH studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys) rs139219355 0.00023
NM_021076.4(NEFH):c.2327C>G (p.Ser776Cys) rs201520640 0.00004
NM_021076.4(NEFH):c.2396C>T (p.Ala799Val) rs375529650 0.00004
NM_021076.4(NEFH):c.764T>C (p.Met255Thr) rs1439460449 0.00003
NM_021076.4(NEFH):c.1055G>A (p.Arg352His) rs750088241 0.00001
NM_021076.4(NEFH):c.2891A>T (p.Lys964Met) rs1193204827 0.00001
NM_021076.4(NEFH):c.1095del (p.Gln365fs)
NM_021076.4(NEFH):c.1147C>T (p.Arg383Ter)
NM_021076.4(NEFH):c.1337T>C (p.Val446Ala)
NM_021076.4(NEFH):c.1516G>A (p.Ala506Thr)
NM_021076.4(NEFH):c.2048C>T (p.Pro683Leu)
NM_021076.4(NEFH):c.2369AGG[2] (p.Glu792del)
NM_021076.4(NEFH):c.25G>C (p.Ala9Pro) rs2062994833
NM_021076.4(NEFH):c.2752del (p.Glu918fs)
NM_021076.4(NEFH):c.2878G>A (p.Glu960Lys)
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs) rs876657411
NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs) rs876657412
NM_021076.4(NEFH):c.337del (p.Asp113fs)
NM_021076.4(NEFH):c.406C>T (p.Gln136Ter) rs1359968264
NM_021076.4(NEFH):c.41dup (p.Phe15fs)
NM_021076.4(NEFH):c.883+1G>C rs1602961831

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