ClinVar Miner

List of variants reported as uncertain significance for age related macular degeneration 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561

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