ClinVar Miner

List of variants in gene VAX1 studied for microphthalmia, syndromic 11

Included ClinVar conditions (1):
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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001112704.2(VAX1):c.688G>A (p.Ala230Thr) rs571879048 0.01297
NM_001112704.2(VAX1):c.678C>T (p.Ala226=) rs534482978 0.00104
NM_001112704.2(VAX1):c.642G>A (p.Leu214=) rs554140675 0.00103
NM_001112704.2(VAX1):c.126C>T (p.Ala42=) rs148630891 0.00086
NM_001112704.2(VAX1):c.675G>T (p.Ser225=) rs1301499368 0.00049
NM_001112704.2(VAX1):c.883A>G (p.Met295Val) rs794727489 0.00034
NM_001112704.2(VAX1):c.621A>T (p.Ser207=) rs944388651 0.00008
NM_001112704.2(VAX1):c.624G>A (p.Ala208=) rs910215164 0.00004
NM_001112704.2(VAX1):c.153C>T (p.Phe51=)
NM_001112704.2(VAX1):c.241+19G>T
NM_001112704.2(VAX1):c.242-5C>T
NM_001112704.2(VAX1):c.250G>A (p.Gly84Arg)
NM_001112704.2(VAX1):c.308C>T (p.Thr103Met)
NM_001112704.2(VAX1):c.312dup (p.Thr105fs) rs1554942980
NM_001112704.2(VAX1):c.375G>T (p.Val125=)
NM_001112704.2(VAX1):c.430-18C>G
NM_001112704.2(VAX1):c.454C>A (p.Arg152Ser) rs387907252
NM_001112704.2(VAX1):c.470A>G (p.Lys157Arg)
NM_001112704.2(VAX1):c.49G>T (p.Glu17Ter)
NM_001112704.2(VAX1):c.510G>A (p.Ser170=)
NM_001112704.2(VAX1):c.541C>A (p.Leu181Met)
NM_001112704.2(VAX1):c.548A>C (p.Glu183Ala)
NM_001112704.2(VAX1):c.551dup (p.Arg186fs)
NM_001112704.2(VAX1):c.561G>A (p.Leu187=)
NM_001112704.2(VAX1):c.638G>C (p.Ser213Thr)
NM_001112704.2(VAX1):c.642G>C (p.Leu214Phe)
NM_001112704.2(VAX1):c.651G>C (p.Leu217=)
NM_001112704.2(VAX1):c.671_685dup (p.Gly224_Ala228dup) rs2133660274
NM_001112704.2(VAX1):c.680C>T (p.Ala227Val)
NM_001112704.2(VAX1):c.684_692dup (p.Ala231_Ala233dup) rs1455706624
NM_001112704.2(VAX1):c.708A>T (p.Pro236=)
NM_001112704.2(VAX1):c.714C>T (p.Gly238=)
NM_001112704.2(VAX1):c.80A>C (p.Lys27Thr)
NM_001112704.2(VAX1):c.821G>T (p.Ser274Ile)
NM_001112704.2(VAX1):c.853G>T (p.Ala285Ser)
NM_001112704.2(VAX1):c.945C>T (p.Ala315=)
NM_001112704.2(VAX1):c.993dup (p.Ala332fs) rs1554942640

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