ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)	rs764928653	0.00036
NM_003172.4(SURF1):c.535dup (p.Arg179fs)	rs1836465016

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