ClinVar Miner

List of variants reported as pathogenic for alacrima, achalasia, and intellectual disability syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter) rs397518460 0.00001
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro) rs397518461
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr) rs1694593071
NM_013335.4(GMPPA):c.210del (p.Ala71fs) rs886037654
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp) rs397518462
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter) rs2125639654

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