ClinVar Miner

List of variants reported as likely benign for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 by Invitae

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ClinVar version:
Total variants: 95
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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.1215C>T (p.Ser405=) rs374962362
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914
NM_004370.6(COL12A1):c.1891+4A>G rs148292262
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.1971A>C (p.Glu657Asp) rs758146130
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147
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.2880G>A (p.Thr960=) rs374531525
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=) rs746395625
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637
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.384C>T (p.Thr128=) rs200378966
NM_004370.6(COL12A1):c.4000+5G>A rs181257320
NM_004370.6(COL12A1):c.4148-4G>A rs146899194
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927
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.4452T>C (p.Asp1484=) rs202092920
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228
NM_004370.6(COL12A1):c.4958-7A>C rs1332779
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.6(COL12A1):c.5394+10T>A rs890398079
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.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006
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.6928A>G (p.Ile2310Val) rs752850582
NM_004370.6(COL12A1):c.6947-6T>C rs200538799
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983
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.8185G>A (p.Glu2729Lys) rs200693552
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.8469+10T>C rs375332527
NM_004370.6(COL12A1):c.8578-4G>A rs780000164
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355
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.8904G>A (p.Pro2968=) rs181007051
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700

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