ClinVar Miner

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

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ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.5525-132A>G rs1332778 0.71264
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_004370.6(COL12A1):c.8265+19A>T rs9447445 0.11270
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791 0.10881
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477 0.01603
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196 0.01590
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258 0.01455
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467 0.01428
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445 0.01425
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242 0.01422
NM_004370.6(COL12A1):c.8650-19T>A rs79461746 0.01255
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372 0.01163
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_004370.6(COL12A1):c.6210+13C>T rs139520272 0.00723
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847 0.00506
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916 0.00501
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965 0.00499
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847 0.00419
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205 0.00348
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=) rs113549828 0.00347
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636 0.00283
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405 0.00262
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn) rs148065232 0.00261
NM_004370.6(COL12A1):c.4691-12G>A rs146472530 0.00243
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364 0.00173
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064 0.00173
NM_004370.6(COL12A1):c.7355-9A>G rs145346828 0.00103
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188 0.00103
NM_004370.6(COL12A1):c.8179-10A>G rs142509363 0.00101
NM_004370.6(COL12A1):c.8753-19G>A rs185465645 0.00086
NM_004370.6(COL12A1):c.2711-15T>C rs74331327 0.00071
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=) rs200230227 0.00071
NM_004370.6(COL12A1):c.997+14G>A rs201998466 0.00071
NM_004370.6(COL12A1):c.8941+18C>T rs368092763 0.00070
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461 0.00067
NM_004370.6(COL12A1):c.190+14C>G rs536848485 0.00065
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495 0.00054
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701 0.00048
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00047
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 0.00034
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848 0.00034
NM_004370.6(COL12A1):c.8320-19T>C rs369006332 0.00034
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180 0.00027
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 0.00026
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg) rs373739940 0.00024
NM_004370.6(COL12A1):c.6068-17G>T rs200347973 0.00024
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_004370.6(COL12A1):c.7354+10T>A rs199945254 0.00017
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met) rs200443479 0.00016
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470 0.00015
NM_004370.6(COL12A1):c.66G>A (p.Glu22=) rs369544130 0.00015
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser) rs200901687 0.00015
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=) rs180961776 0.00013
NM_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559 0.00010
NM_004370.6(COL12A1):c.8416-14A>G rs202033555 0.00009
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168 0.00007
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=) rs572531941 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=) rs775456285 0.00004
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=) rs371112796 0.00004
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841 0.00004
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg) rs774159573 0.00003
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=) rs761187970 0.00002
NM_004370.6(COL12A1):c.2437+13T>C rs545025813 0.00002
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=) rs578252411 0.00001
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala) rs200828190 0.00001
NM_004370.6(COL12A1):c.2164+18C>A rs183023584 0.00001
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00001
NM_004370.6(COL12A1):c.5795-5C>T rs768037406 0.00001
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=) rs534462036 0.00001
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=) rs374671225 0.00001
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=) rs202239067 0.00001
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
NM_004370.6(COL12A1):c.1892-19_1892-18dup rs11347601
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1892-6_1892-5insT rs752652515
NM_004370.6(COL12A1):c.1892-7del rs11347601
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
NM_004370.6(COL12A1):c.2438-8dup rs1032205753
NM_004370.6(COL12A1):c.2711-15dup
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
NM_004370.6(COL12A1):c.334+18del rs2149478980
NM_004370.6(COL12A1):c.335-8del rs2149478420
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=) rs558383133
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val) rs769221057
NM_004370.6(COL12A1):c.5394+10dup
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
NM_004370.6(COL12A1):c.824-10dup
NM_004370.6(COL12A1):c.8319+13del
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
NM_004370.6(COL12A1):c.8469+9G>T
NM_004370.6(COL12A1):c.8685+18dup rs763196298
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
NM_004370.6(COL12A1):c.9010+15A>G
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)

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