ClinVar Miner

List of variants reported as uncertain significance for Bethlem myopathy by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) rs374315921
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001849.3(COL6A2):c.169G>A (p.Val57Ile) rs768434256
NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743
NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965
NM_004369.3(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150
NM_004369.3(COL6A3):c.709+8C>T rs779535244
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)

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