ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely benign by GeneDx

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000169.3(GLA):c.640-532G>A rs143833648 0.00740
NM_000169.3(GLA):c.640-749C>T rs148135742 0.00529
NM_000169.3(GLA):c.369+163A>G rs370226383 0.00524
NM_001199973.2(RPL36A-HNRNPH2):c.300+2303T>C rs191249601 0.00265
NM_000169.3(GLA):c.640-731G>A rs2473815 0.00218
NM_000169.3(GLA):c.640-607G>T rs185121865 0.00102
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.2(GLA):c.-32G>A rs1057523740 0.00005
NM_000169.3(GLA):c.-13G>C rs782051708 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.639+796C>A rs184705124 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 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.195T>C (p.Ser65=) rs782803696 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.501A>T (p.Leu167=) rs782486830 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1191T>C (p.Tyr397=) rs869312236 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000169.2(GLA):c.-24T>G rs1603048396
NM_000169.2(GLA):c.-44C>G rs781906252
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.3(GLA):c.194+229TC[17] rs782246787
NM_000169.3(GLA):c.194+229TC[21] rs782246787
NM_000169.3(GLA):c.194+229TC[23] rs782246787
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.547+163AATT[3] rs200739167
NM_000169.3(GLA):c.639+858C>G rs1603040086
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.721A>G (p.Ser241Gly) rs730880438
NM_000169.3(GLA):c.88A>C (p.Arg30=) rs1603047946
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_001199973.2(RPL36A-HNRNPH2):c.300+2092C>T rs140006150

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