ClinVar Miner

List of variants studied for Bethlem myopathy 2

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87959
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64687
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.28989
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00007
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val) rs565471668 0.00003
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00003
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00003
NM_004370.6(COL12A1):c.1736C>T (p.Ala579Val) rs747479664 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188 0.00001
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn) rs768046164 0.00001
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850 0.00001
NG_042181.1:(g.89607_91434)_(105703_107097)del
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu) rs2149467365
NM_004370.6(COL12A1):c.1481T>G (p.Leu494Trp)
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg) rs2533552820
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val) rs2533532671
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg) rs1768862517
NM_004370.6(COL12A1):c.2726A>C (p.Gln909Pro) rs2533471375
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3205del (p.Tyr1069fs)
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys) rs2533400420
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter) rs115511838
NM_004370.6(COL12A1):c.4285G>A (p.Glu1429Lys) rs2533377068
NM_004370.6(COL12A1):c.4410A>T (p.Glu1470Asp)
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro) rs769518880
NM_004370.6(COL12A1):c.5308_5311del (p.Thr1770fs) rs2533311002
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu) rs1766404539
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu) rs768626277
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala) rs1765885022
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val) rs2149366807
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val) rs910431488
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe) rs2533199678
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7697+1G>C rs1178118885
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp) rs1582069073
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004370.6(COL12A1):c.8219C>A (p.Thr2740Lys) rs1768492753
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg) rs761969672
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr) rs1292560967
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927
NM_004370.6(COL12A1):c.8319+5G>A rs2533110049
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg) rs2533104395
NM_004370.6(COL12A1):c.8348G>A (p.Gly2783Asp)
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8415+1G>A
NM_004370.6(COL12A1):c.8685+1G>A rs2533039492
NM_004370.6(COL12A1):c.9010+2T>C rs2533023759
NM_004370.6(COL12A1):c.9026C>G (p.Ser3009Cys)
NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)
NM_004370.6(COL12A1):c.9113dup (p.Gly3039fs)

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