ClinVar Miner

List of variants in gene AAAS reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_015665.6(AAAS):c.1087+1G>A rs1035139364
NM_015665.6(AAAS):c.1140_1143TCTG[1] (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe) rs121918551
NM_015665.6(AAAS):c.1331+1G>A rs150511103
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718
NM_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326

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