ClinVar Miner

List of variants studied for Ullrich congenital muscular dystrophy by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) rs145527336 0.00016
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr) rs2077865867 0.00001
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp) rs1031520613 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_004370.6(COL12A1):c.5888A>G (p.Gln1963Arg) rs1766321428 0.00001
NM_001848.3(COL6A1):c.1776+1G>A
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr) rs2077848878
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.3497G>C (p.Gly1166Ala)
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004370.6(COL12A1):c.4602C>T (p.Asp1534=) rs1767127938
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093

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