ClinVar Miner

List of variants in gene AMPD2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_001368809.2(AMPD2):c.582C>T (p.Leu194=) rs144177097 0.00016
NM_001368809.2(AMPD2):c.726G>A (p.Pro242=) rs199980707 0.00008
NM_001368809.2(AMPD2):c.-52C>G rs570541266 0.00003
NM_001368809.2(AMPD2):c.134_138del (p.Arg45fs) rs1650570861
NM_001368809.2(AMPD2):c.2170GAG[1] (p.Glu725del)
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001368809.2(AMPD2):c.271dup (p.Tyr91fs) rs2101154903
NM_001368809.2(AMPD2):c.96T>C (p.Ala32=)

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