ClinVar Miner

List of variants in gene COL12A1 reported as likely benign for Bethlem myopathy 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.6(COL12A1):c.177G>A (p.Val59=) rs772158281
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=) rs780620827
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=) rs368940290
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782
NM_004370.6(COL12A1):c.4000+5G>A rs181257320
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4958-7A>C rs1332779
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.6(COL12A1):c.5098-5C>T rs766762283
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.6(COL12A1):c.525G>A (p.Glu175=) rs199736979
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=) rs779833436
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.6(COL12A1):c.7840+9T>G rs774128333
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880
NM_004370.6(COL12A1):c.8686-5A>T rs749754621
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494

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