ClinVar Miner

List of variants in gene PRIMA1 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_178013.4(PRIMA1):c.16T>G (p.Leu6Val) rs186707302 0.00028
NM_178013.4(PRIMA1):c.228A>T (p.Pro76=) rs368397994 0.00025
NM_178013.4(PRIMA1):c.295G>A (p.Val99Ile) rs200260569 0.00007
NM_178013.4(PRIMA1):c.308C>T (p.Ser103Phe) rs186053781 0.00005
NM_178013.4(PRIMA1):c.163C>T (p.Arg55Trp) rs146599561 0.00004
NM_178013.4(PRIMA1):c.146G>A (p.Arg49Gln) rs745490663 0.00003
NM_178013.4(PRIMA1):c.176C>T (p.Pro59Leu) rs550883370 0.00003
NM_178013.4(PRIMA1):c.442G>A (p.Val148Met) rs140016687 0.00003
NM_178013.4(PRIMA1):c.98C>T (p.Thr33Met) rs760874562 0.00003
NM_178013.4(PRIMA1):c.292G>A (p.Ala98Thr) rs753046704 0.00002
NM_178013.4(PRIMA1):c.332T>C (p.Val111Ala) rs145843133 0.00002
NM_178013.4(PRIMA1):c.394G>A (p.Val132Ile) rs761493685 0.00002
NM_178013.4(PRIMA1):c.419C>T (p.Ser140Leu) rs769679879 0.00002
NM_178013.4(PRIMA1):c.431A>G (p.Lys144Arg) rs748192131 0.00002
NM_178013.4(PRIMA1):c.433G>A (p.Gly145Arg) rs779293897 0.00002
NM_178013.4(PRIMA1):c.11G>A (p.Arg4Gln) rs924313155 0.00001
NM_178013.4(PRIMA1):c.13G>A (p.Asp5Asn) rs1457017587 0.00001
NM_178013.4(PRIMA1):c.236A>G (p.Asn79Ser) rs1000407112 0.00001
NM_178013.4(PRIMA1):c.250C>G (p.Pro84Ala) rs376511394 0.00001
NM_178013.4(PRIMA1):c.272C>G (p.Ser91Trp) rs1461678706 0.00001
NM_178013.4(PRIMA1):c.341G>A (p.Cys114Tyr) rs1244257411 0.00001
NM_178013.4(PRIMA1):c.364C>T (p.Pro122Ser) rs1434626074 0.00001
NM_178013.4(PRIMA1):c.379G>A (p.Glu127Lys) rs141491542 0.00001
NM_178013.4(PRIMA1):c.398C>T (p.Ala133Val) rs548656636 0.00001
NM_178013.4(PRIMA1):c.426C>G (p.Ser142Arg) rs370561739 0.00001
NM_178013.4(PRIMA1):c.451G>A (p.Ala151Thr) rs200782279 0.00001
NM_178013.4(PRIMA1):c.455T>C (p.Val152Ala) rs1363990084 0.00001
NM_178013.4(PRIMA1):c.8T>C (p.Leu3Pro) rs1365665298 0.00001
NM_178013.4(PRIMA1):c.94-10A>G rs1885316450 0.00001
NC_000014.8:g.(?_94187790)_(94187912_?)del
NM_178013.4(PRIMA1):c.102_103inv (p.Gly35Ser)
NM_178013.4(PRIMA1):c.116A>C (p.Lys39Thr) rs1595225943
NM_178013.4(PRIMA1):c.149A>T (p.His50Leu) rs1885313756
NM_178013.4(PRIMA1):c.151G>A (p.Val51Ile) rs757100676
NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln) rs1221627092
NM_178013.4(PRIMA1):c.170C>A (p.Pro57His) rs2503456098
NM_178013.4(PRIMA1):c.186_194dup (p.Pro68_Pro70dup) rs1885310371
NM_178013.4(PRIMA1):c.188C>T (p.Pro63Leu) rs2503455806
NM_178013.4(PRIMA1):c.223G>A (p.Ala75Thr) rs777420844
NM_178013.4(PRIMA1):c.226C>T (p.Pro76Ser) rs2503455590
NM_178013.4(PRIMA1):c.22C>G (p.Leu8Val) rs2141200976
NM_178013.4(PRIMA1):c.239C>G (p.Ser80Cys) rs2550261600
NM_178013.4(PRIMA1):c.26G>T (p.Arg9Leu) rs1356463267
NM_178013.4(PRIMA1):c.272C>T (p.Ser91Leu) rs1461678706
NM_178013.4(PRIMA1):c.28C>T (p.Arg10Cys) rs1236227808
NM_178013.4(PRIMA1):c.29G>T (p.Arg10Leu) rs971650267
NM_178013.4(PRIMA1):c.313G>A (p.Val105Met) rs933720150
NM_178013.4(PRIMA1):c.316T>A (p.Phe106Ile) rs201669590
NM_178013.4(PRIMA1):c.33_34inv (p.Cys12Gly)
NM_178013.4(PRIMA1):c.352A>G (p.Ile118Val) rs2076155343
NM_178013.4(PRIMA1):c.353T>C (p.Ile118Thr) rs2076155309
NM_178013.4(PRIMA1):c.359+6T>A rs371216163
NM_178013.4(PRIMA1):c.365C>T (p.Pro122Leu) rs748353542
NM_178013.4(PRIMA1):c.383A>G (p.Asn128Ser) rs2076038151
NM_178013.4(PRIMA1):c.441C>A (p.Asp147Glu) rs966498472
NM_178013.4(PRIMA1):c.44C>A (p.Ser15Tyr) rs1472639661
NM_178013.4(PRIMA1):c.451G>C (p.Ala151Pro) rs200782279
NM_178013.4(PRIMA1):c.47C>T (p.Ser16Leu) rs1366936289
NM_178013.4(PRIMA1):c.82G>C (p.Gly28Arg) rs750307297
NM_178013.4(PRIMA1):c.87C>A (p.Phe29Leu) rs1474313538
NM_178013.4(PRIMA1):c.88G>A (p.Val30Met) rs1885561822
NM_178013.4(PRIMA1):c.91C>G (p.Gln31Glu) rs1449284468
NM_178013.4(PRIMA1):c.98_99delinsTA (p.Thr33Ile) rs2141193915

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