ClinVar Miner

List of variants in gene SQSTM1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_003900.5(SQSTM1):c.783C>T (p.His261=) rs145001811 0.00034
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=) rs140315612 0.00030
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) rs199931327 0.00019
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00018
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=) rs374985304 0.00011
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=) rs376214713 0.00009
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu) rs375495050 0.00006
NM_003900.5(SQSTM1):c.378G>A (p.Val126=) rs774780830 0.00006
NM_003900.5(SQSTM1):c.1165+9A>G rs138885571 0.00005
NM_003900.5(SQSTM1):c.673+10G>C rs753023157 0.00005
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=) rs182058393 0.00004
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=) rs768110162 0.00004
NM_003900.5(SQSTM1):c.570C>T (p.His190=) rs758110159 0.00004
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=) rs200889080 0.00004
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=) rs200695664 0.00004
NM_003900.5(SQSTM1):c.1166-6C>T rs762322293 0.00001
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=) rs371268375 0.00001
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=) rs768088721 0.00001
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=) rs769497182 0.00001
NM_003900.5(SQSTM1):c.532-7C>T rs770329828 0.00001
NM_003900.5(SQSTM1):c.674-7A>C rs776278684 0.00001
NM_003900.5(SQSTM1):c.755-9C>T rs759140266 0.00001
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=) rs779544030 0.00001
NM_003900.5(SQSTM1):c.1166-14_1166-11del rs538853972
NM_003900.5(SQSTM1):c.1166-23T>C
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=) rs374417389
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=) rs372827450
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=) rs148984239

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