ClinVar Miner

List of variants studied for adenine phosphoribosyltransferase deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.1521G>A (p.Pro507=) rs139633564 0.00773
NM_000485.3(APRT):c.376G>A (p.Val126Met) rs75205792 0.00022
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835 0.00006
NM_000485.3(APRT):c.364A>C (p.Arg122=) rs35095508 0.00006
NM_000485.3(APRT):c.482C>T (p.Ser161Leu) rs766909450 0.00005
NM_000485.3(APRT):c.175G>A (p.Asp59Asn) rs768268700 0.00004
NM_000485.3(APRT):c.459C>T (p.Cys153=) rs375131814 0.00004
NM_000485.3(APRT):c.460G>A (p.Val154Met) rs141669365 0.00003
NM_000485.3(APRT):c.1A>G (p.Met1Val) rs930107496 0.00001
NM_000485.3(APRT):c.259C>T (p.Arg87Ter) rs3169258 0.00001
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507 0.00001
NM_000485.3(APRT):c.385C>T (p.Leu129=) rs376129456 0.00001
NM_000485.3(APRT):c.188G>A (p.Gly63Asp) rs1909091672
NM_000485.3(APRT):c.280_286del (p.Gly94fs) rs776240467
NM_000485.3(APRT):c.400+14C>T rs373048958
NM_000485.3(APRT):c.439C>T (p.Gln147Ter) rs745872435

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