ClinVar Miner

List of variants reported as pathogenic for axonal neuropathy by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.307C>T (p.Gln103Ter) rs1313883569 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) rs370358470 0.00001
NC_000016.9:g.(?_80623263)_(81411221_?)del
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.4(GAN):c.1157del (p.Lys386fs) rs1555511861
NM_022041.4(GAN):c.1182C>A (p.Tyr394Ter)
NM_022041.4(GAN):c.1182C>G (p.Tyr394Ter)
NM_022041.4(GAN):c.118G>T (p.Glu40Ter)
NM_022041.4(GAN):c.1191T>A (p.Tyr397Ter)
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter) rs2150691981
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022041.4(GAN):c.206_213dup (p.Lys72fs)
NM_022041.4(GAN):c.301dup (p.Thr101fs) rs2150685528
NM_022041.4(GAN):c.384C>A (p.Cys128Ter)
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer) rs1910419866
NM_022041.4(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.4(GAN):c.502G>T (p.Glu168Ter) rs776404697
NM_022041.4(GAN):c.582T>A (p.Tyr194Ter)
NM_022041.4(GAN):c.779_780del (p.Glu260fs)
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer) rs2150687608
NM_022041.4(GAN):c.993del (p.Phe331fs) rs2150690197

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