ClinVar Miner

List of variants reported as benign for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.282+34C>A rs5024011 0.99646
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) rs604033 0.80050
NM_152490.5(B3GALNT2):c.321= (p.Glu107=) rs291396 0.53906
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_001101426.4(CRPPA):c.789+89A>G rs62441885 0.50511
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.951-52A>G rs7527935 0.34868
NM_017739.4(POMGNT1):c.1212-66T>C rs2292484 0.34786
NM_017739.4(POMGNT1):c.1212-81C>T rs2292485 0.34766
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_133642.5(LARGE1):c.-177C>T rs3210587 0.29884
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_014254.3(RXYLT1):c.*18C>G rs1876465 0.14533
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_006876.3(B4GAT1):c.117G>A (p.Gln39=) rs11537930 0.12566
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12282
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001079802.2(FKTN):c.*5260G>T rs2010861 0.11975
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_133642.5(LARGE1):c.*921C>G rs16992034 0.07871
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_133642.5(LARGE1):c.-397C>G rs114106875 0.07319
NM_017739.4(POMGNT1):c.1895+30A>G rs113174528 0.05532
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_032806.6(POMGNT2):c.1233G>A (p.Gln411=) rs9811883 0.04801
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_017739.4(POMGNT1):c.235+33T>G rs41309197 0.04222
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.*856G>A rs77663505 0.03428
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_017739.4(POMGNT1):c.1111-23C>T rs2292486 0.02728
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360 0.02474
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_133642.5(LARGE1):c.*740A>G rs116335813 0.02207
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326 0.01548
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_021971.4(GMPPB):c.330C>T (p.Asp110=) rs11547261 0.01192
NM_021971.4(GMPPB):c.551= (p.Gln184=) rs1466685 0.01166
NM_133642.5(LARGE1):c.-149G>C rs143403352 0.01106
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001077365.2(POMT1):c.1825+19del rs11345097 0.00998
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) rs114357468 0.00947
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.*1201A>G rs11544101 0.00840
NM_133642.5(LARGE1):c.-83+63217G>C rs114574565 0.00831
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_004393.6(DAG1):c.2271C>T (p.Ala757=) rs78281659 0.00786
NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp) rs147175064 0.00760
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483 0.00759
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900 0.00622
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_032806.6(POMGNT2):c.537G>C (p.Leu179=) rs149932476 0.00458
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425 0.00456
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_032806.6(POMGNT2):c.762G>A (p.Lys254=) rs115870061 0.00429
NM_001079802.2(FKTN):c.648-1278A>C rs181901044 0.00425
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524 0.00339
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_006876.3(B4GAT1):c.828G>T (p.Val276=) rs142956522 0.00291
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) rs1190625 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=) rs142190930 0.00248
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_032806.6(POMGNT2):c.966C>G (p.Ser322=) rs141319921 0.00186
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561 0.00181
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_152490.5(B3GALNT2):c.1361G>C (p.Arg454Thr) rs140350162 0.00163
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_152490.5(B3GALNT2):c.361+19T>C rs190977329 0.00155
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111 0.00116
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser) rs200094365 0.00108
NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) rs139287952 0.00106
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_021971.4(GMPPB):c.640+11G>A rs191912441 0.00101
NM_032806.6(POMGNT2):c.153C>T (p.Ile51=) rs149543151 0.00092
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 0.00088
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053 0.00074
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_001077365.2(POMT1):c.2004-20C>T rs372767898 0.00061
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) rs143223962 0.00041
NM_013382.7(POMT2):c.656+16C>G rs200230662 0.00041
NM_032806.6(POMGNT2):c.239G>A (p.Arg80His) rs146511234 0.00040
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_001077365.2(POMT1):c.1175+16G>A rs371908251 0.00030
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_001079802.2(FKTN):c.*1843A>T rs117283748 0.00026
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00026
NM_152490.5(B3GALNT2):c.465C>T (p.Ile155=) rs138058326 0.00022
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00010
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_021971.4(GMPPB):c.516C>T (p.Asn172=) rs147672249 0.00009
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_013382.7(POMT2):c.237G>A (p.Pro79=) rs201322445 0.00006
NM_017739.4(POMGNT1):c.1111-9C>T rs757533535 0.00006
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077365.2(POMT1):c.699+86C>T rs775951652 0.00004
NM_013382.7(POMT2):c.1654-10C>T rs754208063 0.00004
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744 0.00004
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_001077365.2(POMT1):c.123-5del
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1584+18dup
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.605+13dup
NM_001077365.2(POMT1):c.699+80del
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001101426.4(CRPPA):c.1120-12del
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.534+13dup
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19_836-18dup rs3839757
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_013382.7(POMT2):c.1117-7del
NM_013382.7(POMT2):c.1577-8dup
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.548-11A>G
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_021971.4(GMPPB):c.211-15dup rs368719215
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_032237.5(POMK):c.541C>T (p.Leu181=) rs563599638
NM_032806.6(POMGNT2):c.-43C>T rs2936818
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_152490.5(B3GALNT2):c.-138=
NM_152490.5(B3GALNT2):c.555+7=
NM_152490.5(B3GALNT2):c.762+16_762+17dup rs555883725
NM_152490.5(B3GALNT2):c.762+17del rs555883725
NM_152490.5(B3GALNT2):c.762+9dup rs555883725

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