ClinVar Miner

List of variants reported as benign for Miyoshi myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] rs71034576

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