ClinVar Miner

List of variants reported as pathogenic for Ullrich congenital muscular dystrophy 1A

Included ClinVar conditions (9):
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Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_001848.3(COL6A1):c.1465del (p.Ala489fs) rs797044458
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs) rs1569518771
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter) rs121912937
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter) rs2077858751
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.857del (p.Pro286fs) rs797044457
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) rs2078662535
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.955-2A>C rs1555873084
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004369.4(COL6A3):c.6283-2A>G rs797044988
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_004369.4(COL6A3):c.6310-2A>G rs1559225993
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.6930+5G>A rs749037028
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) rs2106317762

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