ClinVar Miner

List of variants reported as benign for autosomal recessive distal myopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001130987.2(DYSF):c.1449+13C>T rs4852801
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_005476.7(GNE):c.*1054C>A rs7048468
NM_005476.7(GNE):c.*1781G>A rs16933086
NM_005476.7(GNE):c.*1826G>C rs7044157
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*2391C>T rs1043313
NM_005476.7(GNE):c.*630C>T rs150102934
NM_005476.7(GNE):c.*936C>T rs56974443
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
NM_213599.2(ANO5):c.*3178C>G rs6483841
NM_213599.2(ANO5):c.-136G>C rs12792259
NM_213599.2(ANO5):c.-156_-155insAGGGGAATGAGGAGGAGGAGGAGG rs71034576
NM_213599.2(ANO5):c.267T>C (p.Asp89=) rs4312063

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