ClinVar Miner

List of variants in gene ITGA7, LOC126861535 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (586):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_002206.3(ITGA7):c.2357+21A>G rs7953669 0.58989
NM_002206.3(ITGA7):c.2004-19G>A rs2293410 0.47288
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu) rs149403824 0.00333
NM_002206.3(ITGA7):c.2401G>A (p.Val801Ile) rs200397940 0.00114
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361 0.00075
NM_002206.3(ITGA7):c.2448G>A (p.Gln816=) rs142376332 0.00062
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.2534C>T (p.Thr845Met) rs55654066 0.00011
NM_002206.3(ITGA7):c.2478C>T (p.Gly826=) rs551278553 0.00009
NM_002206.3(ITGA7):c.2433-6C>T rs371922720 0.00007
NM_002206.3(ITGA7):c.2196+18G>A rs368745819 0.00006
NM_002206.3(ITGA7):c.2357+1G>A rs200402328 0.00005
NM_002206.3(ITGA7):c.2133C>T (p.Ala711=) rs776810723 0.00004
NM_002206.3(ITGA7):c.2196+7A>G rs751488036 0.00004
NM_002206.3(ITGA7):c.2282C>T (p.Thr761Ile) rs550342721 0.00004
NM_002206.3(ITGA7):c.2357+17C>T rs781251315 0.00004
NM_002206.3(ITGA7):c.2467G>A (p.Val823Met) rs146163713 0.00004
NM_002206.3(ITGA7):c.2004-8C>T rs374198533 0.00003
NM_002206.3(ITGA7):c.2145C>A (p.Val715=) rs375961499 0.00003
NM_002206.3(ITGA7):c.2307C>T (p.Ser769=) rs781670676 0.00003
NM_002206.3(ITGA7):c.2399G>A (p.Arg800His) rs143929243 0.00003
NM_002206.3(ITGA7):c.2195C>T (p.Ala732Val) rs368879643 0.00002
NM_002206.3(ITGA7):c.2270G>A (p.Gly757Asp) rs968147262 0.00002
NM_002206.3(ITGA7):c.2357+11C>T rs769994283 0.00002
NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe) rs137872276 0.00002
NM_002206.3(ITGA7):c.2006A>G (p.Asp669Gly) rs529009372 0.00001
NM_002206.3(ITGA7):c.2098C>T (p.Gln700Ter) rs147648235 0.00001
NM_002206.3(ITGA7):c.2136G>C (p.Gln712His) rs373231582 0.00001
NM_002206.3(ITGA7):c.2197-7A>G rs745457853 0.00001
NM_002206.3(ITGA7):c.2217C>T (p.Ser739=) rs746986308 0.00001
NM_002206.3(ITGA7):c.2220T>C (p.Asn740=) rs1592432574 0.00001
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile) rs773004449 0.00001
NM_002206.3(ITGA7):c.2327C>T (p.Thr776Met) rs1872184486 0.00001
NM_002206.3(ITGA7):c.2328G>A (p.Thr776=) rs369566439 0.00001
NM_002206.3(ITGA7):c.2346G>A (p.Leu782=) rs376433899 0.00001
NM_002206.3(ITGA7):c.2357+10G>A rs1555160977 0.00001
NM_002206.3(ITGA7):c.2358-4C>T rs1173725390 0.00001
NM_002206.3(ITGA7):c.2359A>T (p.Ile787Phe) rs1307621254 0.00001
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter) rs755438542 0.00001
NM_002206.3(ITGA7):c.2393G>A (p.Arg798Gln) rs923021284 0.00001
NM_002206.3(ITGA7):c.2409T>C (p.Ile803=) rs1232500854 0.00001
NM_002206.3(ITGA7):c.2412G>T (p.Glu804Asp) rs775379371 0.00001
NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu) rs763739936 0.00001
NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser) rs761965919 0.00001
NM_002206.3(ITGA7):c.2535+5G>C rs754770500 0.00001
NM_002206.3(ITGA7):c.2004-1G>A
NM_002206.3(ITGA7):c.2011G>A (p.Asp671Asn)
NM_002206.3(ITGA7):c.2024C>G (p.Ala675Gly) rs757891625
NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)
NM_002206.3(ITGA7):c.2054T>C (p.Ile685Thr)
NM_002206.3(ITGA7):c.2059C>T (p.Leu687=) rs1465867726
NM_002206.3(ITGA7):c.2068A>T (p.Met690Leu) rs2136003763
NM_002206.3(ITGA7):c.2070G>C (p.Met690Ile) rs1872299582
NM_002206.3(ITGA7):c.2075C>A (p.Thr692Asn)
NM_002206.3(ITGA7):c.2082G>A (p.Leu694=)
NM_002206.3(ITGA7):c.2088G>A (p.Ser696=) rs1342614050
NM_002206.3(ITGA7):c.2094A>G (p.Pro698=) rs1224102431
NM_002206.3(ITGA7):c.2103C>T (p.Pro701=)
NM_002206.3(ITGA7):c.2110G>T (p.Asp704Tyr) rs1592433547
NM_002206.3(ITGA7):c.2116G>A (p.Asp706Asn)
NM_002206.3(ITGA7):c.2119G>A (p.Asp707Asn)
NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)
NM_002206.3(ITGA7):c.2138T>C (p.Leu713Pro) rs2136003155
NM_002206.3(ITGA7):c.2139C>G (p.Leu713=)
NM_002206.3(ITGA7):c.2140C>T (p.Leu714=)
NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)
NM_002206.3(ITGA7):c.2162T>C (p.Leu721Pro) rs1565622175
NM_002206.3(ITGA7):c.2164C>T (p.His722Tyr) rs1555161168
NM_002206.3(ITGA7):c.2167T>C (p.Tyr723His) rs1565622130
NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer) rs1872274494
NM_002206.3(ITGA7):c.2176G>A (p.Val726Ile) rs2136002840
NM_002206.3(ITGA7):c.2177T>A (p.Val726Asp) rs1872272958
NM_002206.3(ITGA7):c.2179C>T (p.Arg727Trp)
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002206.3(ITGA7):c.2183C>A (p.Ala728Asp) rs750267153
NM_002206.3(ITGA7):c.2188G>C (p.Asp730His) rs1872270795
NM_002206.3(ITGA7):c.2196+14G>T
NM_002206.3(ITGA7):c.2196+20A>G
NM_002206.3(ITGA7):c.2196G>A (p.Ala732=)
NM_002206.3(ITGA7):c.2197-18C>T
NM_002206.3(ITGA7):c.2197-2A>G
NM_002206.3(ITGA7):c.2197-8del rs1555161122
NM_002206.3(ITGA7):c.2219A>G (p.Asn740Ser) rs758279149
NM_002206.3(ITGA7):c.2229C>T (p.Ala743=)
NM_002206.3(ITGA7):c.2235T>C (p.His745=) rs1592432508
NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)
NM_002206.3(ITGA7):c.2273C>T (p.Ala758Val)
NM_002206.3(ITGA7):c.2276del (p.Gln759fs)
NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)
NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser) rs550342721
NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)
NM_002206.3(ITGA7):c.2288A>G (p.Tyr763Cys)
NM_002206.3(ITGA7):c.2290C>T (p.Leu764Phe) rs768591509
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=) rs181711509
NM_002206.3(ITGA7):c.2307C>G (p.Ser769=) rs781670676
NM_002206.3(ITGA7):c.2308G>A (p.Gly770Arg) rs757534042
NM_002206.3(ITGA7):c.2328G>T (p.Thr776=) rs369566439
NM_002206.3(ITGA7):c.2331A>G (p.Glu777=)
NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs) rs2135999822
NM_002206.3(ITGA7):c.2336A>C (p.Glu779Ala)
NM_002206.3(ITGA7):c.2339T>C (p.Val780Ala) rs772845920
NM_002206.3(ITGA7):c.2347C>A (p.Leu783Met) rs1872177936
NM_002206.3(ITGA7):c.2357+12G>A
NM_002206.3(ITGA7):c.2357+12G>T
NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)
NM_002206.3(ITGA7):c.2358-8C>G rs1175401769
NM_002206.3(ITGA7):c.2363G>A (p.Ser788Asn) rs956532606
NM_002206.3(ITGA7):c.2380C>A (p.Pro794Thr) rs1872133759
NM_002206.3(ITGA7):c.2387C>T (p.Ser796Phe) rs2135998252
NM_002206.3(ITGA7):c.2392C>G (p.Arg798Gly) rs755438542
NM_002206.3(ITGA7):c.2397C>T (p.Ala799=)
NM_002206.3(ITGA7):c.2399G>C (p.Arg800Pro) rs143929243
NM_002206.3(ITGA7):c.2418A>G (p.Pro806=) rs1285071627
NM_002206.3(ITGA7):c.2419C>T (p.Leu807=)
NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro) rs1387658204
NM_002206.3(ITGA7):c.2432+11C>A rs555855033
NM_002206.3(ITGA7):c.2433-3C>T rs1592429145
NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter) rs1565620275
NM_002206.3(ITGA7):c.2453TCT[2] (p.Phe820del) rs889073101
NM_002206.3(ITGA7):c.2454C>G (p.Leu818=) rs569417690
NM_002206.3(ITGA7):c.2466T>A (p.Gly822=)
NM_002206.3(ITGA7):c.2471T>G (p.Val824Gly) rs2135996532
NM_002206.3(ITGA7):c.2483G>A (p.Arg828Lys)
NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)
NM_002206.3(ITGA7):c.2500C>T (p.Arg834Trp) rs770155717
NM_002206.3(ITGA7):c.2535+19G>A
NM_002206.3(ITGA7):c.2535+20C>T

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