ClinVar Miner

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

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_002206.3(ITGA7):c.1071G>A (p.Val357=) rs776709976
NM_002206.3(ITGA7):c.111C>T (p.Asp37=) rs1555166186
NM_002206.3(ITGA7):c.139G>A (p.Glu47Lys) rs77929806
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1410-8A>G rs1555162748
NM_002206.3(ITGA7):c.1464C>T (p.Ile488=) rs202051829
NM_002206.3(ITGA7):c.1506-10G>A rs370761565
NM_002206.3(ITGA7):c.1567+8C>T rs755842392
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067
NM_002206.3(ITGA7):c.1671C>T (p.Ala557=) rs570999139
NM_002206.3(ITGA7):c.1845C>T (p.Ala615=) rs189525243
NM_002206.3(ITGA7):c.193C>A (p.Arg65=) rs17854602
NM_002206.3(ITGA7):c.2197-8del rs1555161122
NM_002206.3(ITGA7):c.2448G>A (p.Gln816=) rs142376332
NM_002206.3(ITGA7):c.2454C>G (p.Leu818=) rs569417690
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp) rs140030984
NM_002206.3(ITGA7):c.3057+8G>A rs149798650
NM_002206.3(ITGA7):c.3058-5C>T rs1555158331
NM_002206.3(ITGA7):c.3372C>T (p.Pro1124=) rs141486781
NM_002206.3(ITGA7):c.537G>A (p.Gly179=) rs145463677
NM_002206.3(ITGA7):c.610G>A (p.Ala204Thr) rs76770808
NM_002206.3(ITGA7):c.66G>A (p.Leu22=) rs137962065

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