ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported by Counsyl

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000049.4(ASPA):c.2T>C (p.Met1Thr) rs1057516879 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000049.4(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.4(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.4(ASPA):c.236+1G>A rs1555538157
NM_000049.4(ASPA):c.237-1G>A rs1057517291
NM_000049.4(ASPA):c.237-1G>T rs1057517291
NM_000049.4(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs) rs1057516962
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.382del (p.Glu129fs) rs1555538825
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.4(ASPA):c.514_515dup (p.Tyr173fs) rs1555539105
NM_000049.4(ASPA):c.527-2A>C rs778385612
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.613_621del (p.Phe205_His207del) rs1555539888
NM_000049.4(ASPA):c.626del (p.Phe209fs) rs1555539897
NM_000049.4(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.4(ASPA):c.650_651del (p.Pro217fs) rs1057516498
NM_000049.4(ASPA):c.679_682del (p.Glu227fs) rs1555540674
NM_000049.4(ASPA):c.697del (p.Arg233fs) rs1057516315
NM_000049.4(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.4(ASPA):c.745-1G>A rs1555541278
NM_000049.4(ASPA):c.745-2A>G rs1057517066
NM_000049.4(ASPA):c.796dup (p.Asp266fs) rs1555541291
NM_000049.4(ASPA):c.827_828del (p.Cys276fs) rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.4(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.4(ASPA):c.875AAG[1] (p.Glu293del) rs1555541321
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.4(ASPA):c.922del (p.Ile308fs) rs1057516309
NM_000049.4(ASPA):c.924del (p.Arg309fs) rs1057517260
NM_000049.4(ASPA):c.935T>G (p.Leu312Ter) rs1555541343

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