ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) rs111033571 0.00001
NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter) rs398124253 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NC_000009.11:g.(?_119380583)_(119495822_?)del
NC_000009.11:g.(?_119460022)_(119495822_?)del
NC_000009.11:g.(?_119460155)_(119508439_?)del
NC_000009.11:g.(?_119461613)_(119523251_?)del
NC_000009.12:g.(?_116618324)_(116805820_?)del
NC_000009.12:g.(?_116697723)_(116699724_?)del
NC_000009.12:g.(?_116697733)_(116699714_?)del
NC_000009.12:g.(?_116697743)_(116699704_?)del
NC_000009.12:g.(?_116697743)_(116820783_?)del
NM_012210.4(TRIM32):c.1087del (p.Ala363fs)
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1185dup (p.Gln396fs) rs1180939705
NM_012210.4(TRIM32):c.1188del (p.Val397fs)
NM_012210.4(TRIM32):c.1370dup (p.Leu457fs) rs35904234
NM_012210.4(TRIM32):c.1505C>G (p.Ser502Ter)
NM_012210.4(TRIM32):c.1518_1530del (p.Lys506fs) rs2132075143
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1563dup (p.Asp522Ter)
NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs) rs886044106
NM_012210.4(TRIM32):c.1685del (p.Gly562fs) rs1564218190
NM_012210.4(TRIM32):c.190del (p.Cys64fs)
NM_012210.4(TRIM32):c.201del (p.Thr68fs)
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
NM_012210.4(TRIM32):c.341del (p.Ser114fs)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.476_477dup (p.Met160fs) rs2132071763
NM_012210.4(TRIM32):c.484del (p.Glu162fs)
NM_012210.4(TRIM32):c.498del (p.Lys167fs)
NM_012210.4(TRIM32):c.542_543insAAAGGTA (p.Tyr181Ter) rs2132072043
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs) rs2132072315
NM_012210.4(TRIM32):c.699_700delinsCT (p.Gln234Ter)
NM_012210.4(TRIM32):c.741_745dup (p.Ala249fs)
NM_012210.4(TRIM32):c.758del (p.Leu253fs) rs1861000401
NM_012210.4(TRIM32):c.763G>T (p.Glu255Ter)
NM_012210.4(TRIM32):c.826C>T (p.Gln276Ter)
NM_012210.4(TRIM32):c.868C>T (p.Gln290Ter) rs1272966742
NM_012210.4(TRIM32):c.885del (p.Lys296fs)
NM_012210.4(TRIM32):c.920G>A (p.Trp307Ter)
NM_012210.4(TRIM32):c.921G>A (p.Trp307Ter)
NM_012210.4(TRIM32):c.928G>T (p.Glu310Ter)

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