ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP
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.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.1402C>G (p.Leu468Val)
NM_002206.3(ITGA7):c.1410-7A>G
NM_002206.3(ITGA7):c.1430T>A (p.Val477Asp) rs1275770988
NM_002206.3(ITGA7):c.1459A>G (p.Ser487Gly)
NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly)
NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys) rs201280060
NM_002206.3(ITGA7):c.1589C>A (p.Ala530Glu)
NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln)
NM_002206.3(ITGA7):c.1612G>A (p.Gly538Ser) rs1565626956
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.167T>C (p.Val56Ala) rs1268685956
NM_002206.3(ITGA7):c.1681G>A (p.Val561Met) rs150089409
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.180dup (p.Gln61fs) rs1565644465
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.1829G>T (p.Gly610Val) rs550384423
NM_002206.3(ITGA7):c.1879C>T (p.Arg627Trp) rs760006172
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.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.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.2308G>A (p.Gly770Arg)
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.2446C>T (p.Gln816Ter) rs1565620275
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.259C>T (p.Arg87Cys) rs140570573
NM_002206.3(ITGA7):c.2655C>T (p.Gly885=)
NM_002206.3(ITGA7):c.2720A>G (p.Asp907Gly) rs1365101018
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.2861C>T (p.Thr954Met)
NM_002206.3(ITGA7):c.2907C>T (p.Arg969=)
NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val) rs201354330
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.3041G>A (p.Arg1014Gln) rs779843497
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.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.3373G>C (p.Glu1125Gln)
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.475A>G (p.Met159Val) rs749262192
NM_002206.3(ITGA7):c.572A>G (p.His191Arg) rs1565635502
NM_002206.3(ITGA7):c.601A>G (p.Thr201Ala)
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.799A>G (p.Ile267Val) rs201469044
NM_002206.3(ITGA7):c.85T>C (p.Ser29Pro)
NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys) rs201594532
NM_002206.3(ITGA7):c.955G>A (p.Gly319Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.