ClinVar Miner

List of variants reported as benign for hereditary hyperekplexia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.1230A>G (p.Ser410=) rs7925597 0.99649
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly) rs1443549 0.99417
NM_000824.5(GLRB):c.831T>C (p.Thr277=) rs12507409 0.97830
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser) rs1443548 0.79432
NM_000824.5(GLRB):c.297+10C>T rs41280501 0.42413
NM_004211.5(SLC6A5):c.304G>A (p.Gly102Ser) rs1443547 0.36761
NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=) rs2276433 0.35869
NM_004211.5(SLC6A5):c.352C>T (p.Leu118=) rs2241941 0.33160
NM_004211.5(SLC6A5):c.336C>T (p.Ser112=) rs7109418 0.25043
NM_004211.5(SLC6A5):c.1387G>A (p.Asp463Asn) rs1805091 0.22232
NM_004211.5(SLC6A5):c.2239-6T>C rs2276432 0.17430
NM_004211.5(SLC6A5):c.2071-3C>A rs72932998 0.14713
NM_004211.5(SLC6A5):c.1371G>C (p.Lys457Asn) rs3740870 0.11591
NM_004211.5(SLC6A5):c.1260+20_1260+23dup rs10695726 0.10755
NM_004211.5(SLC6A5):c.1499+15T>C rs80286799 0.08830
NM_004211.5(SLC6A5):c.951G>A (p.Thr317=) rs1443551 0.07046
NM_000824.5(GLRB):c.948T>C (p.Leu316=) rs1801154 0.04794
NM_004211.5(SLC6A5):c.777A>G (p.Pro259=) rs34505618 0.03460
NM_000171.4(GLRA1):c.1224C>T (p.Phe408=) rs62636580 0.02490
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu) rs61736602 0.02191
NM_004211.5(SLC6A5):c.500C>A (p.Thr167Lys) rs61736603 0.01875
NM_000171.4(GLRA1):c.559+8T>G rs73285947 0.01871
NM_000171.4(GLRA1):c.1041G>A (p.Arg347=) rs75463357 0.01573
NM_004211.5(SLC6A5):c.1496A>T (p.Tyr499Phe) rs7944684 0.01483
NM_004211.5(SLC6A5):c.347A>G (p.Asn116Ser) rs61736604 0.01473
NM_004211.5(SLC6A5):c.2299G>A (p.Gly767Arg) rs16906628 0.01434
NM_000824.5(GLRB):c.611-14G>A rs11936411 0.01234
NM_004211.5(SLC6A5):c.811+16C>T rs147290648 0.01069
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=) rs61736605 0.00773
NM_000171.4(GLRA1):c.390C>T (p.Asn130=) rs112970419 0.00652
NM_004211.5(SLC6A5):c.57G>T (p.Ala19=) rs143482044 0.00589
NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg) rs12364685 0.00520
NM_000171.4(GLRA1):c.993C>T (p.Ala331=) rs17112272 0.00476
NM_000824.5(GLRB):c.122+4T>A rs3775725 0.00455
NM_000171.4(GLRA1):c.723G>C (p.Arg241=) rs76872663 0.00430
NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=) rs144357826 0.00278
NM_000824.5(GLRB):c.527+7T>C rs138020195 0.00215
NM_000171.4(GLRA1):c.57-12C>T rs187424144 0.00212
NM_000171.4(GLRA1):c.117G>C (p.Ser39=) rs149023945 0.00191
NM_000824.5(GLRB):c.765C>T (p.Cys255=) rs149595296 0.00178
NM_004211.5(SLC6A5):c.1548C>T (p.Ala516=) rs77029901 0.00150
NM_004211.5(SLC6A5):c.1413C>T (p.Ala471=) rs146042684 0.00149
NM_004211.5(SLC6A5):c.2295C>T (p.His765=) rs147975180 0.00147
NM_004211.5(SLC6A5):c.2171G>C (p.Cys724Ser) rs142440636 0.00076
NM_000824.5(GLRB):c.1198-16C>A rs78670342 0.00039
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln) rs139213838 0.00031
NM_004211.5(SLC6A5):c.102G>T (p.Thr34=) rs762445548 0.00029
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_004211.5(SLC6A5):c.750G>A (p.Ser250=) rs145050333 0.00024
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) rs141815718 0.00018
NM_001353921.2(ARHGEF9):c.946-16C>T rs781867369 0.00011
NM_004211.5(SLC6A5):c.1047C>T (p.Thr349=) rs149532917 0.00011
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) rs782313473 0.00007
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728 0.00005
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482 0.00005
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) rs781930227 0.00005
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) rs369716500 0.00005
NM_000171.4(GLRA1):c.732G>A (p.Leu244=) rs112560122 0.00004
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) rs782520132 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) rs782187939 0.00003
NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln) rs375819582 0.00002
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) rs782666474 0.00002
NM_000824.5(GLRB):c.1380C>T (p.Pro460=) rs548604111 0.00001
NM_000824.5(GLRB):c.627T>A (p.Asp209Glu) rs527904761 0.00001
NM_001353921.2(ARHGEF9):c.1077+13C>G rs782189949 0.00001
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089 0.00001
NM_001353921.2(ARHGEF9):c.31-16C>T rs782420279 0.00001
NM_001353921.2(ARHGEF9):c.403-19G>A rs782062229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_004211.5(SLC6A5):c.2366A>G (p.Lys789Arg) rs543307278 0.00001
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu) rs62636581
NM_000171.4(GLRA1):c.913-8dup
NM_000824.5(GLRB):c.1385C>G (p.Ala462Gly) rs148031091
NM_000824.5(GLRB):c.298-7dup
NM_000824.5(GLRB):c.831= (p.Thr277=)
NM_000824.5(GLRB):c.904+4A>T rs76714257
NM_001353921.2(ARHGEF9):c.120C>T (p.Asp40=)
NM_001353921.2(ARHGEF9):c.1321+16G>T
NM_001353921.2(ARHGEF9):c.1322-10del
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) rs374753195
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
NM_001353921.2(ARHGEF9):c.30+10T>C
NM_001353921.2(ARHGEF9):c.403-13dup
NM_001353921.2(ARHGEF9):c.583-13del
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) rs782497496
NM_001353921.2(ARHGEF9):c.816-12_816-11del rs781845457
NM_004211.5(SLC6A5):c.1395+16del
NM_004211.5(SLC6A5):c.2071-11del
NM_004211.5(SLC6A5):c.395C>G (p.Ala132Gly) rs34243519
NM_004211.5(SLC6A5):c.541-3dup
NM_004211.5(SLC6A5):c.812-11dup rs747885343

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