ClinVar Miner

List of variants reported as likely pathogenic for GNE myopathy by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.302G>A (p.Arg101His) rs144727134 0.00002
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser) rs1057516798 0.00001
NM_005476.7(GNE):c.1525C>T (p.His509Tyr) rs754892377 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.529C>T (p.Arg177Cys) rs539332585 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NC_000009.11:g.(?_36229008)_(36236991_?)dup
NC_000009.11:g.(?_36229008)_(36249404_?)dup
NC_000009.11:g.(?_36246018)_(36249404_?)dup
NC_000009.12:g.(?_36227238)_(36227468_?)dup
NM_001128227.3(GNE):c.51+2T>A
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1071-2A>C
NM_005476.7(GNE):c.1262T>C (p.Val421Ala) rs1057516364
NM_005476.7(GNE):c.1411+1G>C
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr) rs886043979
NM_005476.7(GNE):c.1817-2A>G
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.616G>A (p.Gly206Ser) rs766266918
NM_005476.7(GNE):c.617-1G>A rs1256419231
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)
NM_005476.7(GNE):c.982+2T>A rs2133067872

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