ClinVar Miner

List of variants in gene GDAP1 reported as benign for Charcot-Marie-Tooth disease recessive intermediate a

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_018972.4(GDAP1):c.*1173G>T rs72665430
NM_018972.4(GDAP1):c.*1429A>G rs78545774
NM_018972.4(GDAP1):c.*1647C>T rs115466662
NM_018972.4(GDAP1):c.*1855A>G rs6472842
NM_018972.4(GDAP1):c.*1878G>T rs16938896
NM_018972.4(GDAP1):c.*2214A>G rs10504580
NM_018972.4(GDAP1):c.*2244T>C
NM_018972.4(GDAP1):c.*2463A>G rs9643686
NM_018972.4(GDAP1):c.*357A>G rs1135715
NM_018972.4(GDAP1):c.*561C>G rs80136809
NM_018972.4(GDAP1):c.*61C>T
NM_018972.4(GDAP1):c.*797A>G rs7007283
NM_018972.4(GDAP1):c.*830C>G rs4737414
NM_018972.4(GDAP1):c.*920C>G
NM_018972.4(GDAP1):c.102= (p.Ser34=)
NM_018972.4(GDAP1):c.102C>G (p.Ser34=) rs7828201
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956

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