ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP
NC_000012.11:g.(?_56091459)_(56092721_?)del
NM_001144996.1(ITGA7):c.1011-4A>G rs370741662
NM_002206.3(ITGA7):c.1008C>T (p.Asp336=) rs145114073
NM_002206.3(ITGA7):c.1012A>G (p.Ile338Val)
NM_002206.3(ITGA7):c.1013T>A (p.Ile338Lys) rs1555163357
NM_002206.3(ITGA7):c.1039C>T (p.Arg347Cys)
NM_002206.3(ITGA7):c.1064T>C (p.Val355Ala)
NM_002206.3(ITGA7):c.1071G>A (p.Val357=) rs776709976
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs) rs750756707
NM_002206.3(ITGA7):c.111C>T (p.Asp37=) rs1555166186
NM_002206.3(ITGA7):c.1171C>T (p.Leu391Phe) rs886049667
NM_002206.3(ITGA7):c.1191A>T (p.Pro397=)
NM_002206.3(ITGA7):c.1267G>A (p.Ala423Thr) rs779666592
NM_002206.3(ITGA7):c.1282-4C>G rs534961736
NM_002206.3(ITGA7):c.128G>T (p.Arg43Leu) rs794726901
NM_002206.3(ITGA7):c.1336_1338dup (p.Ser446dup) rs763061281
NM_002206.3(ITGA7):c.1387G>A (p.Ala463Thr) rs150443803
NM_002206.3(ITGA7):c.1396G>A (p.Ala466Thr)
NM_002206.3(ITGA7):c.139G>A (p.Glu47Lys) rs77929806
NM_002206.3(ITGA7):c.1402C>G (p.Leu468Val)
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1410-7A>G
NM_002206.3(ITGA7):c.1410-8A>G rs1555162748
NM_002206.3(ITGA7):c.1430T>A (p.Val477Asp) rs1275770988
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.1459A>G (p.Ser487Gly)
NM_002206.3(ITGA7):c.1464C>T (p.Ile488=) rs202051829
NM_002206.3(ITGA7):c.1506-10G>A rs370761565
NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly)
NM_002206.3(ITGA7):c.1567+1G>A rs1217190017
NM_002206.3(ITGA7):c.1567+8C>T rs755842392
NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys) rs201280060
NM_002206.3(ITGA7):c.1589C>A (p.Ala530Glu)
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln)
NM_002206.3(ITGA7):c.1612G>A (p.Gly538Ser) rs1565626956
NM_002206.3(ITGA7):c.1617G>T (p.Gln539His) rs61733963
NM_002206.3(ITGA7):c.1624C>T (p.Arg542Cys) rs374384926
NM_002206.3(ITGA7):c.1625G>A (p.Arg542His) rs17854598
NM_002206.3(ITGA7):c.1640G>A (p.Ser547Asn)
NM_002206.3(ITGA7):c.1641C>A (p.Ser547Arg) rs1369191520
NM_002206.3(ITGA7):c.1643G>A (p.Arg548His) rs746596659
NM_002206.3(ITGA7):c.1659C>G (p.Pro553=) rs144052152
NM_002206.3(ITGA7):c.1671C>T (p.Ala557=) rs570999139
NM_002206.3(ITGA7):c.167T>C (p.Val56Ala) rs1268685956
NM_002206.3(ITGA7):c.1681G>A (p.Val561Met) rs150089409
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) rs142311782
NM_002206.3(ITGA7):c.1756C>A (p.Leu586Ile) rs1378710493
NM_002206.3(ITGA7):c.1765A>C (p.Ile589Leu) rs200065922
NM_002206.3(ITGA7):c.1771G>A (p.Val591Met) rs774213412
NM_002206.3(ITGA7):c.1811G>A (p.Arg604Gln)
NM_002206.3(ITGA7):c.1819C>T (p.Pro607Ser)
NM_002206.3(ITGA7):c.1823G>T (p.Gly608Val)
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010
NM_002206.3(ITGA7):c.1829G>T (p.Gly610Val) rs550384423
NM_002206.3(ITGA7):c.1845C>T (p.Ala615=) rs189525243
NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp) rs760006172
NM_002206.3(ITGA7):c.193C>A (p.Arg65=) rs17854602
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.3(ITGA7):c.1966A>G (p.Thr656Ala)
NM_002206.3(ITGA7):c.1982C>T (p.Thr661Met) rs749679578
NM_002206.3(ITGA7):c.1994C>T (p.Pro665Leu) rs544984385
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met) rs142326016
NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu) rs76938320
NM_002206.3(ITGA7):c.2088G>A (p.Ser696=) rs1342614050
NM_002206.3(ITGA7):c.2110G>T (p.Asp704Tyr)
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu) rs149403824
NM_002206.3(ITGA7):c.214G>C (p.Val72Leu)
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.2197-8del rs1555161122
NM_002206.3(ITGA7):c.227A>G (p.Gln76Arg) rs767427150
NM_002206.3(ITGA7):c.2282C>T (p.Thr761Ile)
NM_002206.3(ITGA7):c.2290C>T (p.Leu764Phe)
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361
NM_002206.3(ITGA7):c.2308G>A (p.Gly770Arg)
NM_002206.3(ITGA7):c.2357+1G>A rs200402328
NM_002206.3(ITGA7):c.2363G>A (p.Ser788Asn)
NM_002206.3(ITGA7):c.2399G>A (p.Arg800His) rs143929243
NM_002206.3(ITGA7):c.2399G>C (p.Arg800Pro)
NM_002206.3(ITGA7):c.2433-3C>T
NM_002206.3(ITGA7):c.2433-5G>A rs79745402
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.2467G>A (p.Val823Met)
NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu) rs763739936
NM_002206.3(ITGA7):c.2545C>G (p.Gln849Glu) rs143055936
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471
NM_002206.3(ITGA7):c.259C>T (p.Arg87Cys) rs140570573
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062
NM_002206.3(ITGA7):c.2655C>T (p.Gly885=)
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.3(ITGA7):c.2720A>G (p.Asp907Gly) rs1365101018
NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp) rs140030984
NM_002206.3(ITGA7):c.2843T>C (p.Leu948Pro)
NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu) rs143749139
NM_002206.3(ITGA7):c.2851G>A (p.Ala951Thr) rs778278404
NM_002206.3(ITGA7):c.2855G>A (p.Arg952Gln) rs753351732
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.2861C>T (p.Thr954Met)
NM_002206.3(ITGA7):c.2907C>T (p.Arg969=)
NM_002206.3(ITGA7):c.2932C>T (p.Arg978Cys)
NM_002206.3(ITGA7):c.2958+5G>C
NM_002206.3(ITGA7):c.29G>T (p.Trp10Leu)
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.3041G>A (p.Arg1014Gln) rs779843497
NM_002206.3(ITGA7):c.3057+8G>A rs149798650
NM_002206.3(ITGA7):c.3058-5C>T rs1555158331
NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu) rs1292181810
NM_002206.3(ITGA7):c.3118G>T (p.Val1040Phe) rs764565180
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.3203C>T (p.Ala1068Val) rs139136931
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met) rs200485048
NM_002206.3(ITGA7):c.3299T>C (p.Leu1100Pro)
NM_002206.3(ITGA7):c.3322C>T (p.Arg1108Trp)
NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln) rs201709662
NM_002206.3(ITGA7):c.3372C>T (p.Pro1124=) rs141486781
NM_002206.3(ITGA7):c.3373G>C (p.Glu1125Gln)
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949
NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg) rs770066237
NM_002206.3(ITGA7):c.340A>G (p.Met114Val) rs146565340
NM_002206.3(ITGA7):c.385C>T (p.Arg129Trp) rs773647967
NM_002206.3(ITGA7):c.404G>T (p.Gly135Val)
NM_002206.3(ITGA7):c.410T>C (p.Ile137Thr) rs780832051
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.475A>G (p.Met159Val) rs749262192
NM_002206.3(ITGA7):c.537G>A (p.Gly179=) rs145463677
NM_002206.3(ITGA7):c.572A>G (p.His191Arg) rs1565635502
NM_002206.3(ITGA7):c.601A>G (p.Thr201Ala)
NM_002206.3(ITGA7):c.610G>A (p.Ala204Thr) rs76770808
NM_002206.3(ITGA7):c.66G>A (p.Leu22=) rs137962065
NM_002206.3(ITGA7):c.671-1G>A
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala) rs537950420
NM_002206.3(ITGA7):c.709G>A (p.Asp237Asn) rs754762899
NM_002206.3(ITGA7):c.791-7C>T rs144699549
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val) rs201469044
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235
NM_002206.3(ITGA7):c.85T>C (p.Ser29Pro)
NM_002206.3(ITGA7):c.882G>A (p.Val294=) rs148190047
NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys) rs201594532
NM_002206.3(ITGA7):c.903C>T (p.Ser301=) rs113343213
NM_002206.3(ITGA7):c.955G>A (p.Gly319Ser)

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