ClinVar Miner

List of variants in gene GUCA1B studied for not provided

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Gene type:
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Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=) rs3749921 0.53171
NM_002098.6(GUCA1B):c.475+8G>A rs114773899 0.02301
NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp) rs139923590 0.00822
NM_002098.6(GUCA1B):c.399A>G (p.Gln133=) rs34923273 0.00543
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_002098.6(GUCA1B):c.-54A>C rs184508322 0.00070
NM_002098.6(GUCA1B):c.476-3C>T rs200457582 0.00039
NM_002098.6(GUCA1B):c.87G>A (p.Val29=) rs149820788 0.00036
NM_002098.6(GUCA1B):c.449T>G (p.Phe150Cys) rs531673296 0.00029
NM_002098.6(GUCA1B):c.187C>T (p.Arg63Ter) rs200394928 0.00016
NM_002098.6(GUCA1B):c.190G>A (p.Ala64Thr) rs145332570 0.00014
NM_002098.6(GUCA1B):c.150C>T (p.Asp50=) rs142428974 0.00013
NM_002098.6(GUCA1B):c.130C>T (p.Arg44Cys) rs767394548 0.00012
NM_002098.6(GUCA1B):c.386G>A (p.Arg129Gln) rs150562239 0.00011
NM_002098.6(GUCA1B):c.511C>T (p.Arg171Cys) rs370510441 0.00011
NM_002098.6(GUCA1B):c.110T>A (p.Leu37His) rs373492502 0.00009
NM_002098.6(GUCA1B):c.57G>A (p.Ala19=) rs368778664 0.00009
NM_002098.6(GUCA1B):c.583C>T (p.Arg195Trp) rs200626867 0.00008
NM_002098.6(GUCA1B):c.470G>C (p.Gly157Ala) rs371272764 0.00007
NM_002098.6(GUCA1B):c.207+1G>A rs1202390791 0.00006
NM_002098.6(GUCA1B):c.357+6T>C rs542413410 0.00006
NM_002098.6(GUCA1B):c.112T>C (p.Phe38Leu) rs1035459026 0.00005
NM_002098.6(GUCA1B):c.570C>T (p.Leu190=) rs200001533 0.00005
NM_002098.6(GUCA1B):c.153T>C (p.Asp51=) rs556714636 0.00004
NM_002098.6(GUCA1B):c.167A>G (p.Gln56Arg) rs757396349 0.00004
NM_002098.6(GUCA1B):c.208-19G>A rs754435926 0.00004
NM_002098.6(GUCA1B):c.42C>T (p.Gly14=) rs772795655 0.00004
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00004
NM_002098.6(GUCA1B):c.492C>T (p.Asn164=) rs746910924 0.00004
NM_002098.6(GUCA1B):c.540G>A (p.Leu180=) rs767929913 0.00004
NM_002098.6(GUCA1B):c.571G>A (p.Ala191Thr) rs373171101 0.00004
NM_002098.6(GUCA1B):c.65A>G (p.Gln22Arg) rs377415238 0.00004
NM_002098.6(GUCA1B):c.30G>A (p.Ala10=) rs760369977 0.00003
NM_002098.6(GUCA1B):c.318T>C (p.Asn106=) rs778855487 0.00003
NM_002098.6(GUCA1B):c.597G>A (p.Met199Ile) rs144626718 0.00003
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025 0.00002
NM_002098.6(GUCA1B):c.168G>A (p.Gln56=) rs747270321 0.00002
NM_002098.6(GUCA1B):c.172G>A (p.Val58Ile) rs758607920 0.00002
NM_002098.6(GUCA1B):c.219C>T (p.Ile73=) rs756486861 0.00002
NM_002098.6(GUCA1B):c.288G>A (p.Trp96Ter) rs369754399 0.00002
NM_002098.6(GUCA1B):c.29C>T (p.Ala10Val) rs555181489 0.00002
NM_002098.6(GUCA1B):c.361A>G (p.Ile121Val) rs760685465 0.00002
NM_002098.6(GUCA1B):c.123del (p.Glu41fs) rs1275884494 0.00001
NM_002098.6(GUCA1B):c.131G>A (p.Arg44His) rs970558227 0.00001
NM_002098.6(GUCA1B):c.144C>T (p.Val48=) rs769568495 0.00001
NM_002098.6(GUCA1B):c.183G>A (p.Met61Ile) rs754130006 0.00001
NM_002098.6(GUCA1B):c.1A>G (p.Met1Val) rs1353019784 0.00001
NM_002098.6(GUCA1B):c.234C>T (p.Tyr78=) rs762404025 0.00001
NM_002098.6(GUCA1B):c.235G>A (p.Val79Met) rs1448235986 0.00001
NM_002098.6(GUCA1B):c.252C>T (p.Leu84=) rs774962452 0.00001
NM_002098.6(GUCA1B):c.280C>T (p.Leu94=) rs147884871 0.00001
NM_002098.6(GUCA1B):c.322T>A (p.Cys108Ser) rs768840725 0.00001
NM_002098.6(GUCA1B):c.327C>T (p.Ile109=) rs572884394 0.00001
NM_002098.6(GUCA1B):c.328G>A (p.Asp110Asn) rs1318927228 0.00001
NM_002098.6(GUCA1B):c.332G>A (p.Arg111His) rs750812813 0.00001
NM_002098.6(GUCA1B):c.357+8T>A rs1768237595 0.00001
NM_002098.6(GUCA1B):c.384C>T (p.Cys128=) rs1289505684 0.00001
NM_002098.6(GUCA1B):c.387G>A (p.Arg129=) rs527241870 0.00001
NM_002098.6(GUCA1B):c.388C>T (p.Arg130Ter) rs374671365 0.00001
NM_002098.6(GUCA1B):c.389G>A (p.Arg130Gln) rs564752140 0.00001
NM_002098.6(GUCA1B):c.422C>T (p.Thr141Ile) rs769924304 0.00001
NM_002098.6(GUCA1B):c.436G>A (p.Val146Met) rs748933350 0.00001
NM_002098.6(GUCA1B):c.476-4T>A rs769546531 0.00001
NM_002098.6(GUCA1B):c.476-9C>G rs202071473 0.00001
NM_002098.6(GUCA1B):c.516G>A (p.Arg172=) rs752988497 0.00001
NM_002098.6(GUCA1B):c.519C>T (p.Asp173=) rs938180810 0.00001
NM_002098.6(GUCA1B):c.523T>C (p.Trp175Arg) rs760673864 0.00001
NM_002098.6(GUCA1B):c.560G>T (p.Ser187Ile) rs377286851 0.00001
NM_002098.6(GUCA1B):c.584G>A (p.Arg195Gln) rs771976584 0.00001
NM_002098.6(GUCA1B):c.596T>C (p.Met199Thr) rs1408001237 0.00001
NM_002098.6(GUCA1B):c.63C>G (p.Leu21=) rs749265230 0.00001
NM_002098.6(GUCA1B):c.80A>T (p.Lys27Met) rs750603381 0.00001
NC_000006.11:g.(?_42152553)_(42153535_?)del
NM_002098.6(GUCA1B):c.-114A>G rs72854838
NM_002098.6(GUCA1B):c.10G>T (p.Glu4Ter)
NM_002098.6(GUCA1B):c.10_12del (p.Glu4del)
NM_002098.6(GUCA1B):c.111_114del (p.Phe38fs) rs778229627
NM_002098.6(GUCA1B):c.118C>T (p.His40Tyr)
NM_002098.6(GUCA1B):c.137T>A (p.Phe46Tyr) rs2113849698
NM_002098.6(GUCA1B):c.145A>G (p.Thr49Ala) rs1471110454
NM_002098.6(GUCA1B):c.146_147del (p.Thr49fs) rs1175310819
NM_002098.6(GUCA1B):c.151G>A (p.Asp51Asn) rs1332544198
NM_002098.6(GUCA1B):c.153_155del (p.Asp51del) rs1421823326
NM_002098.6(GUCA1B):c.155AGG[1] (p.Glu53del)
NM_002098.6(GUCA1B):c.15T>G (p.Phe5Leu) rs202229506
NM_002098.6(GUCA1B):c.171_172inv (p.Val58Ile)
NM_002098.6(GUCA1B):c.178G>A (p.Gly60Ser)
NM_002098.6(GUCA1B):c.179G>A (p.Gly60Asp) rs2113849659
NM_002098.6(GUCA1B):c.186C>T (p.Phe62=)
NM_002098.6(GUCA1B):c.188G>A (p.Arg63Gln)
NM_002098.6(GUCA1B):c.195C>T (p.Phe65=)
NM_002098.6(GUCA1B):c.205_206delinsAA (p.Gly69Lys)
NM_002098.6(GUCA1B):c.207+13G>A
NM_002098.6(GUCA1B):c.207+20A>G
NM_002098.6(GUCA1B):c.208-12C>T rs2113846057
NM_002098.6(GUCA1B):c.213C>T (p.Asn71=)
NM_002098.6(GUCA1B):c.230A>C (p.Glu77Ala)
NM_002098.6(GUCA1B):c.245T>C (p.Leu82Pro) rs1768240381
NM_002098.6(GUCA1B):c.24G>A (p.Glu8=)
NM_002098.6(GUCA1B):c.24GGAGGC[3] (p.9EA[3]) rs2113849791
NM_002098.6(GUCA1B):c.257T>C (p.Leu86Pro)
NM_002098.6(GUCA1B):c.260G>C (p.Arg87Thr) rs911189359
NM_002098.6(GUCA1B):c.282del (p.Lys95fs)
NM_002098.6(GUCA1B):c.285G>A (p.Lys95=) rs2113845997
NM_002098.6(GUCA1B):c.290C>T (p.Thr97Ile)
NM_002098.6(GUCA1B):c.295A>G (p.Lys99Glu)
NM_002098.6(GUCA1B):c.296A>G (p.Lys99Arg)
NM_002098.6(GUCA1B):c.297G>A (p.Lys99=) rs794727264
NM_002098.6(GUCA1B):c.305A>T (p.Asp102Val)
NM_002098.6(GUCA1B):c.310G>A (p.Asp104Asn) rs1486991919
NM_002098.6(GUCA1B):c.312T>G (p.Asp104Glu) rs1239750905
NM_002098.6(GUCA1B):c.315C>T (p.Gly105=)
NM_002098.6(GUCA1B):c.331C>T (p.Arg111Cys) rs552920546
NM_002098.6(GUCA1B):c.332G>T (p.Arg111Leu)
NM_002098.6(GUCA1B):c.347A>G (p.Asn116Ser)
NM_002098.6(GUCA1B):c.357+3del
NM_002098.6(GUCA1B):c.358-18C>G
NM_002098.6(GUCA1B):c.358-1G>A
NM_002098.6(GUCA1B):c.358-5G>A rs1768183561
NM_002098.6(GUCA1B):c.359G>A (p.Gly120Glu) rs139823805
NM_002098.6(GUCA1B):c.369G>A (p.Gln123=) rs2113844058
NM_002098.6(GUCA1B):c.373A>G (p.Lys125Glu) rs1220955743
NM_002098.6(GUCA1B):c.385C>T (p.Arg129Trp)
NM_002098.6(GUCA1B):c.386_387inv (p.Arg129Pro)
NM_002098.6(GUCA1B):c.38C>T (p.Ala13Val)
NM_002098.6(GUCA1B):c.397C>A (p.Gln133Lys)
NM_002098.6(GUCA1B):c.417G>A (p.Leu139=)
NM_002098.6(GUCA1B):c.426C>T (p.Pro142=)
NM_002098.6(GUCA1B):c.428A>C (p.Glu143Ala) rs1365897651
NM_002098.6(GUCA1B):c.435C>G (p.Val145=) rs754635818
NM_002098.6(GUCA1B):c.435C>T (p.Val145=)
NM_002098.6(GUCA1B):c.443G>A (p.Arg148Lys)
NM_002098.6(GUCA1B):c.450C>G (p.Phe150Leu) rs1768181326
NM_002098.6(GUCA1B):c.455TGG[1] (p.Val153del) rs1768181076
NM_002098.6(GUCA1B):c.457G>C (p.Val153Leu) rs1054494562
NM_002098.6(GUCA1B):c.467A>T (p.Asn156Ile) rs1768180893
NM_002098.6(GUCA1B):c.475+15G>A rs1194541156
NM_002098.6(GUCA1B):c.475+17T>G
NM_002098.6(GUCA1B):c.475+18G>T
NM_002098.6(GUCA1B):c.475+19G>C
NM_002098.6(GUCA1B):c.475+1G>A
NM_002098.6(GUCA1B):c.475+2T>C rs2113843956
NM_002098.6(GUCA1B):c.476-10C>G
NM_002098.6(GUCA1B):c.476-1G>A rs1165115435
NM_002098.6(GUCA1B):c.476-3C>G rs200457582
NM_002098.6(GUCA1B):c.476-6_476-5delinsTT rs2113843513
NM_002098.6(GUCA1B):c.476-9dup rs755161979
NM_002098.6(GUCA1B):c.493G>A (p.Glu165Lys)
NM_002098.6(GUCA1B):c.512G>A (p.Arg171His)
NM_002098.6(GUCA1B):c.514C>T (p.Arg172Trp)
NM_002098.6(GUCA1B):c.526G>A (p.Val176Met) rs1446471287
NM_002098.6(GUCA1B):c.534G>A (p.Lys178=)
NM_002098.6(GUCA1B):c.55G>A (p.Ala19Thr) rs1768369372
NM_002098.6(GUCA1B):c.56C>T (p.Ala19Val)
NM_002098.6(GUCA1B):c.573T>C (p.Ala191=) rs2113843428
NM_002098.6(GUCA1B):c.578A>G (p.Gln193Arg) rs1768165616
NM_002098.6(GUCA1B):c.581G>A (p.Arg194Lys)
NM_002098.6(GUCA1B):c.582A>T (p.Arg194Ser)
NM_002098.6(GUCA1B):c.582_584dup (p.Arg195dup) rs1768165333
NM_002098.6(GUCA1B):c.590G>A (p.Ser197Asn)
NM_002098.6(GUCA1B):c.593C>G (p.Ala198Gly) rs1554186885
NM_002098.6(GUCA1B):c.594C>T (p.Ala198=) rs1768165016
NM_002098.6(GUCA1B):c.6G>T (p.Gly2=)
NM_002098.6(GUCA1B):c.95G>A (p.Cys32Tyr)
NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser) rs140794161
NM_002098.6(GUCA1B):c.99C>A (p.Pro33=) rs1171417207

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