ClinVar Miner

List of variants studied for congenital muscular dystrophy due to integrin alpha-7 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val) rs139136931 0.00073
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met) rs142326016 0.00029
NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu) rs76938320 0.00024
NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val) rs201354330 0.00006
NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp) rs760006172 0.00002
NM_002206.3(ITGA7):c.307T>A (p.Cys103Ser) rs779677072 0.00001
NM_002206.3(ITGA7):c.1410-3del rs773251917

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