ClinVar Miner

List of variants in gene ARSA reported by Ambry Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000487.6(ARSA):c.605G>A (p.Arg202His) rs201794808 0.00019
NM_000487.6(ARSA):c.680C>G (p.Ser227Cys) rs138468395 0.00018
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro) rs369543471 0.00008
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00008
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) rs907795869 0.00006
NM_000487.6(ARSA):c.325G>A (p.Val109Met) rs746259972 0.00004
NM_000487.6(ARSA):c.492C>G (p.Phe164Leu) rs745605987 0.00004
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.572C>T (p.Ala191Val) rs770694856 0.00002
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg) rs144393886 0.00002
NM_000487.6(ARSA):c.968A>C (p.His323Pro) rs545353558 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.565G>A (p.Val189Met) rs774085931 0.00001
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys) rs371515553 0.00001
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp) rs794727704 0.00001
NM_000487.6(ARSA):c.1028C>T (p.Ala343Val)
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1181G>A (p.Gly394Glu) rs2518323611
NM_000487.6(ARSA):c.1205C>G (p.Thr402Ser) rs2518323440
NM_000487.6(ARSA):c.1442G>C (p.Arg481Pro) rs776116011
NM_000487.6(ARSA):c.1483T>G (p.Cys495Gly) rs1480775242
NM_000487.6(ARSA):c.1489C>A (p.Pro497Thr)
NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys) rs878992768
NM_000487.6(ARSA):c.196G>A (p.Val66Met) rs2082697969
NM_000487.6(ARSA):c.20G>T (p.Arg7Leu)
NM_000487.6(ARSA):c.232C>T (p.Leu78Phe)
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.454T>C (p.Ser152Pro) rs754595975
NM_000487.6(ARSA):c.509G>A (p.Cys170Tyr) rs1265482146
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys) rs900681963
NM_000487.6(ARSA):c.788T>C (p.Leu263Pro) rs2082674283
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg) rs1404723529
NM_000487.6(ARSA):c.859G>C (p.Glu287Gln) rs1163123717
NM_000487.6(ARSA):c.89C>T (p.Ala30Val)

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