ClinVar Miner

List of variants in gene PSAP reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_002778.4(PSAP):c.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.3(PSAP):c.-33T>C rs143987544

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