ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 9 by Genome-Nilou Lab

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.860+19A>G rs524998 0.73896
NM_001368809.2(AMPD2):c.1272T>C (p.His424=) rs863978 0.70414
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001368809.2(AMPD2):c.91+180C>G rs186745159 0.09427
NM_001368809.2(AMPD2):c.-263+18T>C rs28362580 0.09386
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_001368809.2(AMPD2):c.1699-11T>C rs188035528 0.00087
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=) rs147146700 0.00031
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) rs570605098 0.00026
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=) rs371970036 0.00024
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) rs376516473 0.00014
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00011
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010
NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter) rs753591864 0.00008
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met) rs749833212 0.00006
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) rs374249741 0.00005
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val) rs145441666 0.00004
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr) rs149171366 0.00003
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr) rs374652371 0.00003
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) rs754712604 0.00003
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) rs770051774 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_001368809.2(AMPD2):c.-18G>T rs772899120 0.00001
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met) rs751131036 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) rs761542502 0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His) rs200750655 0.00001
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=) rs778185309 0.00001
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn) rs374652371
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
NM_001368809.2(AMPD2):c.2228T>C (p.Leu743Pro) rs752607637
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp) rs373334637
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)

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