ClinVar Miner

List of variants reported as benign for isolated microphthalmia 8

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000693.4(ALDH1A3):c.1233+8G>A rs3825924 0.16407
NM_000693.4(ALDH1A3):c.1156A>G (p.Met386Val) rs3803430 0.11067
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_000693.4(ALDH1A3):c.204+5A>C rs74386167 0.00542
NM_000693.4(ALDH1A3):c.345+15T>C rs200775146 0.00180
NM_000693.4(ALDH1A3):c.327G>A (p.Arg109=) rs146169888 0.00156
NM_000693.4(ALDH1A3):c.1134G>A (p.Lys378=) rs112582857 0.00101
NM_000693.4(ALDH1A3):c.945G>T (p.Thr315=) rs2229183 0.00089
NM_000693.4(ALDH1A3):c.1107C>A (p.Ile369=) rs3803431 0.00057
NM_000693.4(ALDH1A3):c.1407C>T (p.Asn469=) rs145659258 0.00030
NM_000693.4(ALDH1A3):c.1068+14T>C

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