ClinVar Miner

List of variants reported as likely pathogenic 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: 9
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
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_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
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_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858

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