ClinVar Miner

List of variants in gene AMPD2 reported as uncertain significance for central nervous system malformation

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) rs376516473 0.00014
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00010
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met) rs749833212 0.00006
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser) rs764032802 0.00006
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln) rs143736463 0.00006
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu) rs763257527 0.00004
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val) rs1349754803 0.00004
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys) rs776751502 0.00004
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val) rs145441666 0.00004
NM_001368809.2(AMPD2):c.-149G>A rs773946980 0.00003
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) rs754712604 0.00003
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu) rs746845817 0.00003
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln) rs753757082 0.00003
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) rs770051774 0.00002
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe) rs766037337 0.00002
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys) rs769550203 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_001368809.2(AMPD2):c.-161T>G rs769851350 0.00001
NM_001368809.2(AMPD2):c.-18G>T rs772899120 0.00001
NM_001368809.2(AMPD2):c.-38G>A rs1650212785 0.00001
NM_001368809.2(AMPD2):c.-75G>T rs1025210705 0.00001
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val) rs749918422 0.00001
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln) rs771577116 0.00001
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg) rs539379857 0.00001
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) rs761542502 0.00001
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys) rs1253216358 0.00001
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His) rs1308492888 0.00001
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp) rs745350160 0.00001
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=) rs1399925815 0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His) rs200750655 0.00001
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys) rs575582124 0.00001
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu) rs567095077 0.00001
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr) rs748621330 0.00001
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu) rs768283469 0.00001
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys) rs1255257133 0.00001
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val) rs771408289 0.00001
NM_001368809.2(AMPD2):c.-119G>C
NM_001368809.2(AMPD2):c.-45C>T
NM_001368809.2(AMPD2):c.-46C>G rs1650210949
NM_001368809.2(AMPD2):c.-95T>C
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val) rs2101153100
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys) rs1200977295
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys) rs867766720
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
NM_001368809.2(AMPD2):c.1863-7C>G rs563578390
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu) rs955380053
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly) rs1264297138
NM_001368809.2(AMPD2):c.2110A>G (p.Met704Val) rs1477045999
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=) rs2101174469
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu) rs1651160667
NM_001368809.2(AMPD2):c.2170GAG[1] (p.Glu725del)
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
NM_001368809.2(AMPD2):c.2228T>C (p.Leu743Pro) rs752607637
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly) rs762954605
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
NM_001368809.2(AMPD2):c.2327del (p.Ile776fs) rs1651209606
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly) rs1651209949
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp) rs202071045
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys) rs2101154665
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu) rs1650618181
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
NM_001368809.2(AMPD2):c.353+3G>A
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg) rs2101156801
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp) rs373334637
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
NM_001368809.2(AMPD2):c.806T>C (p.Leu269Pro) rs1570587910
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His) rs749468757
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu) rs770528852
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del) rs1650781134
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
NM_001368809.2(AMPD2):c.861-3C>T
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)

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