List of variants in gene SURF1 reported as pathogenic for Charcot-Marie-Tooth disease type 4K

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	rs782190413	0.00004
NM_003172.4(SURF1):c.107-2A>G	rs782726390	0.00001
NM_003172.4(SURF1):c.532_535del (p.Asn178fs)	rs1057517942
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)	rs782490558
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)	rs864309500

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