ClinVar Miner

List of variants reported as pathogenic for congenital muscular dystrophy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) rs1779702214
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128

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