ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance for Ullrich congenital muscular dystrophy 1

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870 0.00003
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) rs2106370324
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) rs2078397283
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) rs1480888719
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958

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