ClinVar Miner

List of variants studied for Galactosylceramide beta-galactosidase deficiency by Counsyl

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ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000153.4(GALC):c.195+15G>A rs748140458 0.00005
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.157C>T (p.Arg53Trp) rs752371343 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.179C>T (p.Ala60Val) rs759110815 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000153.2(GALC):c.-261C>A rs1307710694 0.00001
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.*14A>G rs143444570 0.00001
NM_000153.4(GALC):c.-17G>A rs886050868 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.195+1G>A rs1009872980 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.2T>A (p.Met1Lys) rs780972896 0.00001
NM_000153.4(GALC):c.328+1G>T rs779701490 0.00001
NM_000153.4(GALC):c.3G>A (p.Met1Ile) rs758685128 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NC_000014.9:g.87925139C>T rs1555377065
NC_000014.9:g.87925152T>C rs1555377066
NC_000014.9:g.87925176G>A rs1234372203
NM_000153.2(GALC):c.-218G>C rs1555384433
NM_000153.2(GALC):c.-219dup rs1555384436
NM_000153.2(GALC):c.-234delGinsTTCC rs1555384440
NM_000153.2(GALC):c.-257dup rs1555384444
NM_000153.2(GALC):c.-285dup rs1482465546
NM_000153.2(GALC):c.-296dup rs1555384458
NM_000153.2(GALC):c.-317delG rs1555384465
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter) rs1057516270
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) rs1555384342
NM_000153.4(GALC):c.1162-5_1162-4delinsC rs1555379806
NM_000153.4(GALC):c.1162-6_1162-5delinsA rs1555379811
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) rs1057517372
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1273dup (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs) rs1555384335
NM_000153.4(GALC):c.1426dup (p.Ser476fs) rs1057517082
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) rs751283440
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) rs1057517033
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.190_195+9del rs1057517187
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1912-1G>C rs1555377947
NM_000153.4(GALC):c.195+1G>C rs1009872980
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) rs762034337
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.1A>G (p.Met1Val) rs1555384382
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter) rs959445153
NM_000153.4(GALC):c.2T>C (p.Met1Thr) rs780972896
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) rs1057516673
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.442+2T>G rs1057516632
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.49_50del (p.Met17fs) rs1555384360
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del) rs1555383500
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583A>G (p.Ile195Val) rs1555383309
NM_000153.4(GALC):c.591dup (p.Glu198Ter) rs1555383308
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer) rs1555381958
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) rs746922378
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380

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