List of variants in gene GJB1 reported as pathogenic for Charcot-Marie-Tooth disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)	rs587781246	0.00014
NM_000166.6(GJB1):c.-103C>T	rs863224971
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	rs116840818
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)	rs863224972
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)	rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	rs116840815
NM_000166.6(GJB1):c.576del (p.Phe193fs)	rs1602349692
NM_000166.6(GJB1):c.629_632del (p.Val210fs)	rs1602349779
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	rs1555937020
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	rs1060501002
NM_000166.6(GJB1):c.772del (p.Ser258fs)	rs1602349940
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)	rs1602349962
NM_000166.6(GJB1):c.800del (p.Pro267fs)	rs1602350003
NM_000166.6(GJB1):c.822del (p.Glu275fs)	rs1602350029
NM_000166.6(GJB1):c.844dup (p.Ala282fs)	rs1602350062
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)	rs1555936989

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