ClinVar Miner

List of variants reported as benign for Matthew-Wood syndrome by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.*222G>A rs10910 0.56107
NM_022369.4(STRA6):c.1167-10C>G rs2277608 0.19949
NM_022369.4(STRA6):c.*127T>C rs11631944 0.16338
NM_022369.4(STRA6):c.331C>T (p.Leu111=) rs11857410 0.15148
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) rs736118 0.10407
NM_022369.4(STRA6):c.*489T>C rs75117524 0.03106
NM_022369.4(STRA6):c.*569T>C rs78299262 0.02762
NM_022369.4(STRA6):c.597+9T>G rs28541560 0.01509
NM_022369.4(STRA6):c.*75C>A rs182529524 0.01016
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) rs145614612 0.00790
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) rs142105038 0.00787
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) rs115067613 0.00746
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762 0.00660
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) rs111489755 0.00533
NM_022369.4(STRA6):c.1836C>T (p.Asp612=) rs142048815 0.00192
NM_022369.4(STRA6):c.105G>A (p.Gln35=) rs199782189 0.00001
NM_022369.4(STRA6):c.1685-15G>A rs151148422

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