ClinVar Miner

List of variants in gene SURF1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_003172.4(SURF1):c.107-2A>G rs782726390
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003172.4(SURF1):c.751+6T>C rs41296099
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919

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