ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4K

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu) rs1836501449
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224

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