ClinVar Miner

List of variants reported as risk factor by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_002458.2(MUC5B):c.-3133G>T rs35705950
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003661.3(APOL1):c.[1024A>G;1152T>G]
NM_003661.3:c.[1024A>G;1152T>G];[1164_1169delTTATAA]
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313

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