ClinVar Miner

List of variants reported as benign for congenital muscular dystrophy due to integrin alpha-7 deficiency

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP
NM_001144996.1(ITGA7):c.1011-4A>G rs370741662
NM_002206.3(ITGA7):c.1008C>T (p.Asp336=) rs145114073
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His) rs61733963
NM_002206.3(ITGA7):c.1659C>G (p.Pro553=) rs144052152
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) rs142311782
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu) rs149403824
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361
NM_002206.3(ITGA7):c.2433-5G>A rs79745402
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879
NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=) rs62648071
NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=) rs114735704
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) rs142060614
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002206.3(ITGA7):c.791-7C>T rs144699549
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235
NM_002206.3(ITGA7):c.882G>A (p.Val294=) rs148190047
NM_002206.3(ITGA7):c.903C>T (p.Ser301=) rs113343213

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