ClinVar Miner

List of variants studied for age related macular degeneration 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
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Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_000041.4(APOE):c.651C>T (p.Ala217=) rs72654468 0.00090
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000041.4(APOE):c.69G>A (p.Ala23=) rs111833428 0.00024
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000041.4(APOE):c.249C>T (p.Asp83=) rs767980905 0.00003
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561

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