ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506

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