ClinVar Miner

List of variants studied for PSAT deficiency by Illumina Laboratory Services, Illumina

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_058179.4(PSAT1):c.*422C>T rs10867185 0.11667
NM_058179.4(PSAT1):c.*592A>C rs115361057 0.02603
NM_058179.4(PSAT1):c.*252G>C rs17064358 0.02208
NM_058179.4(PSAT1):c.*836A>G rs41277905 0.00996
NM_058179.4(PSAT1):c.*664A>G rs41277903 0.00713
NM_058179.4(PSAT1):c.*251C>T rs76966550 0.00666
NM_058179.4(PSAT1):c.*865C>G rs529821810 0.00257
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) rs116577685 0.00194
NM_058179.4(PSAT1):c.*670T>G rs143748888 0.00096
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00064
NM_058179.4(PSAT1):c.*496A>G rs553854445 0.00056
NM_058179.4(PSAT1):c.445G>A (p.Val149Met) rs142975997 0.00055
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln) rs114496656 0.00041
NM_058179.4(PSAT1):c.*554G>A rs376749590 0.00029
NM_058179.4(PSAT1):c.*498C>T rs573775683 0.00028
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_058179.4(PSAT1):c.1008-11G>T rs200199574 0.00017
NM_058179.4(PSAT1):c.*241C>A rs1057515673 0.00016
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) rs116103106 0.00014
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) rs113824905 0.00011
NM_058179.4(PSAT1):c.*719G>A rs898367741 0.00008
NM_058179.4(PSAT1):c.*789A>G rs1057515674 0.00005
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) rs140897665 0.00005
NM_058179.4(PSAT1):c.231A>T (p.Gly77=) rs762436279 0.00004
NM_058179.4(PSAT1):c.*293A>G rs1263262669 0.00003
NM_058179.4(PSAT1):c.*378T>C rs1828550108 0.00001
NM_058179.4(PSAT1):c.*939C>T rs1161300205 0.00001
NM_058179.4(PSAT1):c.-26T>G rs1352659492 0.00001
NM_058179.4(PSAT1):c.1007+13G>A rs1057515672 0.00001
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp) rs761364177 0.00001
NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala) rs770574883 0.00001
NM_058179.4(PSAT1):c.270C>T (p.Leu90=) rs775726256 0.00001
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val) rs778303528 0.00001
NM_058179.4(PSAT1):c.398-14G>A rs202026355 0.00001
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00001
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn) rs767197857 0.00001
NM_058179.4(PSAT1):c.706A>C (p.Asn236His) rs138085071 0.00001
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr) rs1057515671 0.00001
NM_058179.4(PSAT1):c.*219A>G rs1828547598
NM_058179.4(PSAT1):c.*252G>A rs17064358
NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp) rs1398106119
NM_058179.4(PSAT1):c.398-7G>A rs1828181852
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr) rs547331710
NM_058179.4(PSAT1):c.54G>A (p.Pro18=) rs763694865
NM_058179.4(PSAT1):c.55C>G (p.His19Asp) rs1057515669
NM_058179.4(PSAT1):c.571-4dup rs536197677

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