ClinVar Miner

List of variants in gene SQSTM1 studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_003900.5(SQSTM1):c.755-23G>A rs2241349 0.32312
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.-27C>T rs781131232
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer) rs1758359961
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
NM_003900.5(SQSTM1):c.1306C>T (p.His436Tyr) rs534476029
NM_003900.5(SQSTM1):c.240C>G (p.Asp80Glu) rs148366738
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214

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