ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser) rs1569518677
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.1813+2_1813+3del rs2077836463
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys) rs1569517943
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6283-2A>C rs797044988
NM_004369.4(COL6A3):c.6309+3A>G rs1553553327
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829

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