ClinVar Miner

List of variants in gene TTC21B reported as likely pathogenic

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) rs748663904 0.00004
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp) rs749330118 0.00003
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2741del (p.Cys914fs) rs754911118 0.00002
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1516+1G>A
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.152-1G>A rs371396651
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1900-1G>T
NM_024753.5(TTC21B):c.1900-2A>G
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) rs1559056633
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) rs759648976
NM_024753.5(TTC21B):c.2138+1G>T
NM_024753.5(TTC21B):c.2461+1G>A
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.3130_3131dup (p.His1045fs)
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.3383_3402del (p.Tyr1128fs) rs1685077018
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_024753.5(TTC21B):c.3684+1G>A
NM_024753.5(TTC21B):c.370_380del (p.His124fs) rs1237271536
NM_024753.5(TTC21B):c.3806-2A>G rs2105275776
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.895-1G>A rs773008707
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698
NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu)
NM_024753.5(TTC21B):c.[2569G>A;3130_3131dup]

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