List of variants in gene ALDH18A1 reported as likely pathogenic for congenital entropion

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	rs762742204	0.00009
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)	rs537043237	0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)	rs121434582	0.00002
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)	rs752669339	0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)	rs1462559161	0.00001
NM_002860.4(ALDH18A1):c.88+1G>A	rs556267618	0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)	rs765380273	0.00001
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1468-2A>C
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)	rs1555264243
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)	rs774047299
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
NM_002860.4(ALDH18A1):c.809-1G>A	rs1202802893
NM_002860.4(ALDH18A1):c.933+1G>A	rs2139593958

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