ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy by 3billion

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1813+2_1813+3del rs2077836463
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004369.4(COL6A3):c.6309+3A>G rs1553553327
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)

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