List of variants in gene INF2 studied for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_022489.4(INF2):c.*10C>T	rs142710295	0.00580
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)	rs1595163736
NM_022489.4(INF2):c.170T>G (p.Leu57Arg)	rs1595163736
NM_022489.4(INF2):c.203T>C (p.Phe68Ser)	rs1595163801
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)	rs1595163808
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)	rs1595163820
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)	rs1595163851
NM_022489.4(INF2):c.230T>G (p.Leu77Arg)	rs1595163851
NM_022489.4(INF2):c.314T>G (p.Val105Gly)	rs1555373363
NM_022489.4(INF2):c.317G>C (p.Arg106Pro)	rs1595164070
NM_022489.4(INF2):c.323T>A (p.Val108Asp)	rs1595164081
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)	rs1595164091
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)	rs387907038
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)	rs1595165937
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)	rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)	rs912928648
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	rs530391015

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