ClinVar Miner

List of variants reported as likely benign for isolated microphthalmia 8

Included ClinVar conditions (1):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_000693.4(ALDH1A3):c.123C>G (p.His41Gln) rs2229182 0.00122
NM_000693.4(ALDH1A3):c.690G>A (p.Val230=) rs61757679 0.00076
NM_000693.4(ALDH1A3):c.987G>A (p.Glu329=) rs146381363 0.00060
NM_000693.4(ALDH1A3):c.1386G>A (p.Thr462=) rs140128387 0.00035
NM_000693.4(ALDH1A3):c.99+15C>T rs749764506 0.00034
NM_000693.4(ALDH1A3):c.1485C>T (p.Ala495=) rs367983812 0.00026
NM_000693.4(ALDH1A3):c.1306G>A (p.Asp436Asn) rs145630728 0.00025
NM_000693.4(ALDH1A3):c.1143C>T (p.Cys381=) rs113661159 0.00024
NM_000693.4(ALDH1A3):c.1408G>A (p.Ala470Thr) rs147752643 0.00020
NM_000693.4(ALDH1A3):c.884-10C>T rs780602308 0.00011
NM_000693.4(ALDH1A3):c.1293A>G (p.Arg431=) rs767447083 0.00009
NM_000693.4(ALDH1A3):c.538-4G>A rs368867260 0.00004
NM_000693.4(ALDH1A3):c.210C>T (p.Asp70=) rs533333193 0.00001
NM_000693.4(ALDH1A3):c.1275C>T (p.Ile425=)
NM_000693.4(ALDH1A3):c.1320A>G (p.Thr440=)
NM_000693.4(ALDH1A3):c.1386G>T (p.Thr462=)
NM_000693.4(ALDH1A3):c.1398C>T (p.Asn466=) rs2041847825
NM_000693.4(ALDH1A3):c.366A>G (p.Thr122=)
NM_000693.4(ALDH1A3):c.36G>A (p.Gln12=)
NM_000693.4(ALDH1A3):c.432T>C (p.Phe144=)
NM_000693.4(ALDH1A3):c.600C>T (p.Thr200=)
NM_000693.4(ALDH1A3):c.873G>A (p.Ala291=)
NM_000693.4(ALDH1A3):c.876C>T (p.Asp292=)
NM_000693.4(ALDH1A3):c.966G>A (p.Val322=)

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