List of variants in gene GLRA1 reported as benign for hereditary hyperekplexia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.-196C>T	rs2071221	0.41437
NM_000171.4(GLRA1):c.1224C>T (p.Phe408=)	rs62636580	0.02490
NM_000171.4(GLRA1):c.559+8T>G	rs73285947	0.01871
NM_000171.4(GLRA1):c.1041G>A (p.Arg347=)	rs75463357	0.01573
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)	rs116474260	0.00939
NM_000171.4(GLRA1):c.390C>T (p.Asn130=)	rs112970419	0.00652
NM_000171.4(GLRA1):c.993C>T (p.Ala331=)	rs17112272	0.00476
NM_000171.4(GLRA1):c.723G>C (p.Arg241=)	rs76872663	0.00430
NM_000171.4(GLRA1):c.57-12C>T	rs187424144	0.00212
NM_000171.4(GLRA1):c.117G>C (p.Ser39=)	rs149023945	0.00191
NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln)	rs139213838	0.00031
NM_000171.4(GLRA1):c.522C>T (p.Pro174=)	rs114046477	0.00025
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln)	rs199561280	0.00019
NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro)	rs74542605	0.00007
NM_000171.4(GLRA1):c.324C>T (p.Asp108=)	rs762489154	0.00006
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln)	rs561848502	0.00004
NM_000171.4(GLRA1):c.732G>A (p.Leu244=)	rs112560122	0.00004
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=)	rs78363193	0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr)	rs779993828	0.00003
NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln)	rs375819582	0.00002
NM_000171.4(GLRA1):c.1341C>T (p.His447=)	rs773707878	0.00001
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu)	rs62636581
NM_000171.4(GLRA1):c.913-8dup

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