ClinVar Miner

List of variants studied for congenital muscular dystrophy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.38C>T (p.Ala13Val) rs779585255 0.00026
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) rs17854600 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_000426.4(LAMA2):c.397-4_478del rs1554217494
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.4(LAMA2):c.7452-1G>A rs1554304931
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val) rs778258870
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) rs886039896
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala) rs1554226736
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu) rs762958440
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter) rs1569054086
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala) rs1569052732
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser) rs201227908
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu) rs902286336
NR_027928.2(CHKB-CPT1B):n.772_780del rs1603443745

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.