ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely benign by Color Diagnostics, LLC DBA Color Health

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087 0.00005
NM_000169.3(GLA):c.-13G>C rs782051708 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 0.00004
NM_000169.3(GLA):c.802-6T>G rs782529392 0.00004
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000169.3(GLA):c.195T>C (p.Ser65=) rs782803696 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.402T>C (p.Tyr134=) rs1183869568 0.00002
NM_000169.3(GLA):c.465T>C (p.Asp155=) rs782197072 0.00002
NM_000169.3(GLA):c.963G>A (p.Gln321=) rs1001403373 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1060A>G (p.Ile354Val) rs782200316 0.00001
NM_000169.3(GLA):c.1095T>C (p.Tyr365=) rs104894849 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239 0.00001
NM_000169.3(GLA):c.1233C>T (p.Gly411=) rs1555984746 0.00001
NM_000169.3(GLA):c.177G>A (p.Glu59=) rs782188157 0.00001
NM_000169.3(GLA):c.194+6A>G rs1463398466 0.00001
NM_000169.3(GLA):c.26A>G (p.His9Arg) rs1555987214 0.00001
NM_000169.3(GLA):c.330T>G (p.Pro110=) rs781967285 0.00001
NM_000169.3(GLA):c.33C>T (p.Gly11=) rs781856890 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.369T>C (p.Tyr123=) rs869312282 0.00001
NM_000169.3(GLA):c.597G>A (p.Val199=) rs1555985551 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.894T>C (p.Asn298=) rs869312444 0.00001
NM_000169.3(GLA):c.-15C>T rs782422036
NM_000169.3(GLA):c.1066C>A (p.Arg356=) rs104894827
NM_000169.3(GLA):c.111A>C (p.Ala37=) rs1928586427
NM_000169.3(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.3(GLA):c.375C>T (p.His125=) rs2147477873
NM_000169.3(GLA):c.585C>T (p.Gly195=) rs1928285510
NM_000169.3(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.3(GLA):c.63C>T (p.Leu21=) rs869312361
NM_000169.3(GLA):c.679C>A (p.Arg227=) rs104894841
NM_000169.3(GLA):c.819T>C (p.Phe273=)
NM_000169.3(GLA):c.822C>T (p.Gly274=) rs1928174281
NM_000169.3(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.3(GLA):c.906C>T (p.His302=) rs1928165990
NM_000169.3(GLA):c.915T>C (p.Pro305=) rs782250167

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