ClinVar Miner

List of variants reported as benign for Welander distal myopathy

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
NM_022173.4(TIA1):c.947C>G (p.Ala316Gly) rs116828570 0.00661
NM_022173.4(TIA1):c.1086G>A (p.Pro362=) rs72902461 0.00650
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_022173.4(TIA1):c.924G>A (p.Gln308=) rs79075815 0.00380
NM_022173.4(TIA1):c.1122G>A (p.Gln374=) rs76710635 0.00347
NM_022173.4(TIA1):c.978T>C (p.Gly326=) rs78236170 0.00319
NM_022173.4(TIA1):c.679+18G>T rs373922488 0.00085
NM_022173.4(TIA1):c.27-14T>G rs374792026 0.00031
NM_022173.4(TIA1):c.75A>G (p.Gln25=) rs114952383 0.00011
NM_022173.4(TIA1):c.93A>G (p.Gly31=) rs560119254 0.00004
NM_022173.4(TIA1):c.1101T>C (p.Asn367=) rs200990761 0.00002
NM_022173.4(TIA1):c.30C>T (p.Tyr10=) rs532963050 0.00001
NM_022173.4(TIA1):c.223-3del rs750862626
NM_022173.4(TIA1):c.223-3dup rs750862626
NM_022173.4(TIA1):c.223-5_223-3del

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