ClinVar Miner

List of variants reported for Ullrich congenital muscular dystrophy 1 by Broad Institute Rare Disease Group, Broad Institute

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.955-3C>G rs1208931749
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784

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