ClinVar Miner

List of variants in gene SURF1 studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003172.4(SURF1):c.107-2A>G rs782726390 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu) rs1836501449
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) rs1057517942
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) rs782788600
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919

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