List of variants in gene AMPD2 reported as uncertain significance for Pontocerebellar hypoplasia type 9

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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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	0.00011
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met)	rs749833212	0.00006
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val)	rs145441666	0.00004
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.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.2039C>T (p.Pro680Leu)	rs761542502	0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His)	rs200750655	0.00001
NM_001368809.2(AMPD2):c.2110A>G (p.Met704Val)	rs1477045999
NM_001368809.2(AMPD2):c.2126C>T (p.Thr709Ile)
NM_001368809.2(AMPD2):c.2170GAG[1] (p.Glu725del)
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.2327del (p.Ile776fs)	rs1651209606
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.806T>C (p.Leu269Pro)	rs1570587910
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)

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