ClinVar Miner

List of variants studied for Scapuloperoneal myopathy

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06427
NM_002471.4(MYH6):c.-64G>C rs79618123 0.00747
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NC_000014.9:g.23408281C>T rs142094404 0.00318
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.*105T>C rs200550717 0.00018
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667 0.00005
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415

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