ClinVar Miner

List of variants in gene DLG3 studied for X-linked disease

Included ClinVar conditions (275):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_021120.4(DLG3):c.341G>C (p.Arg114Pro) rs759162614 0.00010
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) rs149595793 0.00007
NM_021120.4(DLG3):c.2243T>C (p.Ile748Thr) rs1234828740 0.00003
NM_021120.4(DLG3):c.251C>T (p.Pro84Leu) rs374006597 0.00003
NM_021120.4(DLG3):c.1280G>A (p.Arg427His) rs775293712 0.00002
NM_021120.4(DLG3):c.1138T>C (p.Phe380Leu) rs749973560 0.00001
NM_021120.4(DLG3):c.532G>T (p.Gly178Trp) rs864321655 0.00001
NM_021120.4(DLG3):c.5A>C (p.His2Pro) rs1410761133 0.00001
NM_021120.4(DLG3):c.-8dup
NM_021120.4(DLG3):c.1092dup (p.Thr365fs) rs398122846
NM_021120.4(DLG3):c.1145+659T>G rs1555961574
NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)
NM_021120.4(DLG3):c.127G>A (p.Gly43Arg)
NM_021120.4(DLG3):c.1302+1G>A rs1373474125
NM_021120.4(DLG3):c.1302G>A (p.Ser434=) rs1555961898
NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) rs398122847
NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter) rs2147842078
NM_021120.4(DLG3):c.159del (p.Tyr54fs) rs1602857000
NM_021120.4(DLG3):c.1819+1del
NM_021120.4(DLG3):c.1972+1G>A
NM_021120.4(DLG3):c.209G>C (p.Arg70Pro)
NM_021120.4(DLG3):c.2266C>T (p.Arg756Ter) rs2147892965
NM_021120.4(DLG3):c.248G>A (p.Gly83Glu) rs2147765084
NM_021120.4(DLG3):c.293T>C (p.Leu98Pro)
NM_021120.4(DLG3):c.357+1G>C rs587777359
NM_021120.4(DLG3):c.575C>T (p.Ser192Leu)
NM_021120.4(DLG3):c.593G>A (p.Arg198Gln)
NM_021120.4(DLG3):c.985+1G>C rs587777360
NM_021120.4(DLG3):c.985+36C>G
NM_021120.4(DLG3):c.985+5G>A rs2147771642

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