ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) rs17854600 0.00006
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter) rs141365537 0.00003
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) rs750756707 0.00002
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter) rs201217202 0.00002
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter) rs757680080 0.00002
NM_002206.3(ITGA7):c.2098C>T (p.Gln700Ter) rs147648235 0.00001
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter) rs755438542 0.00001
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter) rs1055839662 0.00001
NM_002206.3(ITGA7):c.3040C>T (p.Arg1014Ter) rs377510220 0.00001
NC_000012.11:g.(?_56091458)_(56093230_?)del
NC_000012.12:g.(?_55697675)_(55698937_?)del
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_002206.3(ITGA7):c.1088del (p.Gly363fs) rs587780362
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.1205del (p.Gly402fs) rs1565629479
NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter) rs372328960
NM_002206.3(ITGA7):c.1506-2A>G rs1565627745
NM_002206.3(ITGA7):c.1767del (p.Ile589fs)
NM_002206.3(ITGA7):c.187C>T (p.Gln63Ter) rs1228677393
NM_002206.3(ITGA7):c.1966del (p.Thr656fs)
NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter) rs1874440714
NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer) rs1872274494
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter) rs2136073462
NM_002206.3(ITGA7):c.2276del (p.Gln759fs)
NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs) rs2135999822
NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter) rs1565620275
NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)
NM_002206.3(ITGA7):c.2670del (p.Gln891fs)
NM_002206.3(ITGA7):c.2710del (p.Leu904fs)
NM_002206.3(ITGA7):c.2712+2T>C rs774985604
NM_002206.3(ITGA7):c.2749dup (p.Glu917fs) rs1871773510
NM_002206.3(ITGA7):c.2817del (p.Ala940fs)
NM_002206.3(ITGA7):c.29G>A (p.Trp10Ter) rs775325159
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) rs754699820
NM_002206.3(ITGA7):c.34dup (p.Ala12fs) rs1384460756
NM_002206.3(ITGA7):c.517del (p.Arg173fs) rs2136056222

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