ClinVar Miner

List of variants in gene PMS1 reported as not provided by ITMI

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000534.5(PMS1):c.2377T>C (p.Tyr793His) rs1145234 0.01429
NM_000534.5(PMS1):c.1181T>C (p.Met394Thr) rs1145231 0.01423
NM_000534.5(PMS1):c.1501G>A (p.Gly501Arg) rs1145232 0.01419
NM_000534.5(PMS1):c.605G>A (p.Arg202Lys) rs2066459 0.00741
NM_000534.5(PMS1):c.2417C>G (p.Thr806Ser) rs55859858 0.00711
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) rs61736576 0.00477
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys) rs151325573 0.00212
NM_000534.5(PMS1):c.1895A>G (p.Asn632Ser) rs2066456 0.00179
NM_000534.5(PMS1):c.418+78G>A rs550407834 0.00055
NM_000534.5(PMS1):c.1744G>A (p.Val582Ile) rs74512161 0.00033
NM_000534.5(PMS1):c.1001C>T (p.Thr334Met) rs147084726 0.00014
NM_000534.5(PMS1):c.1888C>T (p.Arg630Ter) rs139932286 0.00009
NM_000534.5(PMS1):c.329C>G (p.Thr110Arg) rs372752293 0.00004
NM_000534.5(PMS1):c.1436G>C (p.Gly479Ala) rs587778612 0.00002
NM_000534.5(PMS1):c.2058T>G (p.Ile686Met) rs587778614 0.00001
NM_000534.5(PMS1):c.2219C>T (p.Ser740Phe) rs587778613 0.00001
NM_000534.5(PMS1):c.2470C>A (p.Pro824Thr) rs587778611 0.00001
NM_000534.5(PMS1):c.174_175delinsTA (p.Glu59Lys) rs587778608
NM_000534.5(PMS1):c.2377T>G (p.Tyr793Asp) rs1145234
NM_000534.5(PMS1):c.287C>G (p.Ala96Gly) rs139414606
NM_000534.5(PMS1):c.492dup (p.Cys165fs) rs587778609
NM_000534.5(PMS1):c.575A>G (p.His192Arg) rs587778610

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