ClinVar Miner

List of variants in gene LOC130067862, SCO2, TYMP studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) rs551975117 0.00056
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) rs777564992 0.00041
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) rs1013301590 0.00016
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) rs748898877 0.00007
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.1301-9G>A rs548524392 0.00004
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) rs863224253 0.00003
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 0.00003
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) rs932099850 0.00002
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) rs1251044974 0.00001
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) rs1085307802 0.00001
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) rs1060499534 0.00001
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) rs752674133 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) rs1159355069 0.00001
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) rs1064792892
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) rs1603441848
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) rs1060499532
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) rs773643115
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) rs1276418601
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) rs1060499533
NM_001953.5(TYMP):c.1159+2T>A rs770277446
NM_001953.5(TYMP):c.1160-1G>C rs797044455
NM_001953.5(TYMP):c.1160-2A>C rs1064792877
NM_001953.5(TYMP):c.1160-2A>G rs1064792877
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu)
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) rs1556486467
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) rs2069353068
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) rs863224254
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) rs2069352300
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) rs2069348232
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) rs1064792874
NM_001953.5(TYMP):c.1300+2T>A rs1064792879
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) rs1471478620
NM_001953.5(TYMP):c.1311del (p.Trp437fs) rs1064792889
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) rs781153870
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) rs1064792890
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) rs1556486029
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) rs764275775
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) rs2069332918
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) rs1064792891
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) rs768582480
NM_001953.5(TYMP):c.1410dup (p.Ser471fs) rs786205097
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) rs11479
NM_001953.5(TYMP):c.1416del (p.Phe473fs) rs1203886148
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) rs1064792885
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) rs863224256
NM_001953.5(TYMP):c.966T>C (p.Thr322=) rs1064792856
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) rs1064792881

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