ClinVar Miner

List of variants in gene MAF studied for not provided

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_005360.5(MAF):c.*176A>G rs2287974 0.33800
NM_005360.5(MAF):c.1118+217C>T rs1046958 0.26866
NM_005360.5(MAF):c.*32del rs148849596 0.06201
NM_005360.5(MAF):c.1118+36A>T rs12919670 0.01326
NM_005360.5(MAF):c.-282G>A rs146161866 0.01298
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045 0.01232
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592 0.01160
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01073
NM_005360.5(MAF):c.1118+67T>C rs73587071 0.00654
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_005360.5(MAF):c.594C>T (p.Gly198=) rs866444177 0.00046
NM_005360.5(MAF):c.547C>A (p.His183Asn) rs1262562851 0.00013
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_005360.5(MAF):c.285C>A (p.Thr95=) rs369752568 0.00010
NM_005360.5(MAF):c.442G>T (p.Ala148Ser) rs758854502 0.00004
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_005360.5(MAF):c.828G>A (p.Arg276=) rs539852214 0.00003
NM_005360.5(MAF):c.1009C>T (p.Leu337=) rs1913772669 0.00002
NM_005360.5(MAF):c.695G>T (p.Gly232Val) rs1210195937 0.00001
NM_005360.5(MAF):c.699C>A (p.Gly233=) rs1193982100 0.00001
NM_005360.5(MAF):c.897C>T (p.Arg299=) rs1199556915 0.00001
GRCh37/hg19 16q23.2(chr16:79570137-79636851)x3
GRCh37/hg19 16q23.2(chr16:79632678-79633799)x1
NM_005360.5(MAF):c.*185G>C rs30412
NM_005360.5(MAF):c.*219G>C rs78847445
NM_005360.5(MAF):c.-152C>T rs3743596
NM_005360.5(MAF):c.-30GGC[4] rs5818251
NM_005360.5(MAF):c.-30GGC[5] rs5818251
NM_005360.5(MAF):c.-30GGC[6] rs5818251
NM_005360.5(MAF):c.-30GGC[7] rs5818251
NM_005360.5(MAF):c.-526C>T rs192477942
NM_005360.5(MAF):c.-88C>T rs4081752
NM_005360.5(MAF):c.1037A>G (p.Glu346Gly) rs1913768733
NM_005360.5(MAF):c.1079G>C (p.Gly360Ala)
NM_005360.5(MAF):c.1097C>G (p.Pro366Arg)
NM_005360.5(MAF):c.1097del (p.Pro366fs)
NM_005360.5(MAF):c.1118+176AC[12] rs5818250
NM_005360.5(MAF):c.1118+176AC[13] rs5818250
NM_005360.5(MAF):c.1118+176AC[15] rs5818250
NM_005360.5(MAF):c.1118+176AC[16] rs5818250
NM_005360.5(MAF):c.1118+176AC[17] rs5818250
NM_005360.5(MAF):c.1118+176AC[18] rs5818250
NM_005360.5(MAF):c.1118+183_1118+184insCACG rs777759060
NM_005360.5(MAF):c.1119-169dup rs36052284
NM_005360.5(MAF):c.1119-179C>T rs143565138
NM_005360.5(MAF):c.1119-87del rs66467731
NM_005360.5(MAF):c.1119-88_1119-87del rs66467731
NM_005360.5(MAF):c.1132C>A (p.Arg378Ser) rs752338390
NM_005360.5(MAF):c.1137G>A (p.Lys379=) rs2507621799
NM_005360.5(MAF):c.1169G>A (p.Trp390Ter)
NM_005360.5(MAF):c.161C>T (p.Ser54Leu) rs727502766
NM_005360.5(MAF):c.163C>G (p.Leu55Val) rs373316975
NM_005360.5(MAF):c.170C>T (p.Ser57Phe) rs1555530080
NM_005360.5(MAF):c.173C>T (p.Thr58Ile) rs727502769
NM_005360.5(MAF):c.180G>T (p.Met60Ile) rs995203630
NM_005360.5(MAF):c.185C>G (p.Thr62Arg) rs727502771
NM_005360.5(MAF):c.206C>G (p.Pro69Arg) rs727502768
NM_005360.5(MAF):c.206del (p.Pro69fs) rs2143816916
NM_005360.5(MAF):c.208dup (p.Ser70fs) rs1555530054
NM_005360.5(MAF):c.23G>T (p.Ser8Ile)
NM_005360.5(MAF):c.306C>A (p.Asn102Lys)
NM_005360.5(MAF):c.378C>A (p.Gly126=)
NM_005360.5(MAF):c.391_392delinsCT (p.Tyr131Leu) rs2507664419
NM_005360.5(MAF):c.520C>G (p.Gln174Glu) rs2143809957
NM_005360.5(MAF):c.544CAC[5] (p.His187del) rs1029898670
NM_005360.5(MAF):c.544CAC[8] (p.His187_Ala188insHisHis)
NM_005360.5(MAF):c.590C>G (p.Ala197Gly) rs2143808140
NM_005360.5(MAF):c.609_638del (p.Ser205_Gly214del)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del) rs887468453
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.705CGG[3] (p.Gly238_Ala239insGly) rs1555529870
NM_005360.5(MAF):c.716_726dup (p.Gly243fs)
NM_005360.5(MAF):c.731G>T (p.Gly244Val) rs1423244186
NM_005360.5(MAF):c.779G>C (p.Arg260Pro)
NM_005360.5(MAF):c.817G>A (p.Glu273Lys)
NM_005360.5(MAF):c.817G>T (p.Glu273Ter)
NM_005360.5(MAF):c.820C>G (p.Leu274Val) rs2143802140
NM_005360.5(MAF):c.827G>C (p.Arg276Pro) rs1251371757
NM_005360.5(MAF):c.82A>C (p.Met28Leu)
NM_005360.5(MAF):c.866T>G (p.Leu289Arg)
NM_005360.5(MAF):c.892A>T (p.Asn298Tyr)
NM_005360.5(MAF):c.895C>A (p.Arg299Ser) rs786205221
NM_005360.5(MAF):c.898G>A (p.Gly300Ser) rs2143800672
NM_005360.5(MAF):c.914G>T (p.Cys305Phe) rs1913782042
NM_005360.5(MAF):c.916C>T (p.Arg306Cys)
NM_005360.5(MAF):c.959A>G (p.Lys320Arg) rs2507654121

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