ClinVar Miner

List of variants reported by Santos-Cortez Lab, University of Colorado School of Medicine

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000301.5(PLG):c.1414G>A (p.Asp472Asn) rs4252125 0.23826
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01697
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_152750.5(CDHR3):c.1516C>T (p.Leu506Phe) rs76067797 0.00424
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000301.5(PLG):c.782G>A (p.Arg261His) rs4252187 0.00273
NM_144670.6(A2ML1):c.2713-8C>A rs184386564 0.00216
NM_152750.5(CDHR3):c.1135C>T (p.Pro379Ser) rs200102793 0.00109
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) rs147175166 0.00073
NM_152750.5(CDHR3):c.2185T>C (p.Tyr729His) rs201969268 0.00055
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_152750.5(CDHR3):c.622G>A (p.Val208Met) rs200019471 0.00030
NM_006846.4(SPINK5):c.551G>A (p.Gly184Asp) rs201812473 0.00024
NM_152750.5(CDHR3):c.1064C>T (p.Pro355Leu) rs202204966 0.00010
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His) rs200346409 0.00009
NM_144670.6(A2ML1):c.971-8C>T rs780868782 0.00006
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) rs201288888 0.00002
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_006846.4(SPINK5):c.2493T>A (p.Asn831Lys) rs760919933 0.00001
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511 0.00001
NM_000301.5(PLG):c.1481C>T (p.Ala494Val) rs4252128
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_003064.4(SLPI):c.394+1G>T
NM_006846.4(SPINK5):c.*74A>G rs1754713291
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile) rs1431744993
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006846.4(SPINK5):c.2974A>T (p.Met992Leu) rs1561708913
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) rs1409944554
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His) rs780743143
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) rs999028234
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His) rs1565476223
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro) rs1465018225
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) rs1565479896
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) rs1408810942
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro) rs1565484901
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) rs1565487941
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144672.4(OTOA):c.2301+1G>T rs1567396832
NM_152750.5(CDHR3):c.1316del (p.Pro439fs) rs201638418
NM_152750.5(CDHR3):c.2392G>T (p.Ala798Ser) rs140818720

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