ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as benign by GeneDx

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.4017+240T>C rs8074344 0.61842
NM_000334.4(SCN4A):c.4017+268C>T rs8074752 0.61705
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_000334.4(SCN4A):c.3442-130G>A rs11657448 0.27202
NM_000334.4(SCN4A):c.4017+103C>A rs35501848 0.27107
NM_000334.4(SCN4A):c.3913-164G>A rs11869827 0.27059
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_000334.4(SCN4A):c.*1427T>C rs2727278 0.18159
NM_000334.4(SCN4A):c.*1271T>A rs2727277 0.18122
NM_000334.4(SCN4A):c.*22A>G rs2228995 0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=) rs2227906 0.15916
NM_000334.4(SCN4A):c.4289-280_4289-268del rs551182184 0.12619
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=) rs2227907 0.12581
NM_000334.4(SCN4A):c.3913-102C>T rs8079073 0.09463
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_000334.4(SCN4A):c.2376+43G>A rs60037396 0.08251
NM_000334.4(SCN4A):c.*1737A>G rs16947276 0.06978
NM_000334.4(SCN4A):c.3913-170G>A rs60444956 0.06396
NM_000334.4(SCN4A):c.*1357A>G rs113012761 0.05971
NM_000334.4(SCN4A):c.*122G>A rs2228997 0.05774
NM_000334.4(SCN4A):c.3441+164G>C rs8075954 0.05015
NM_000334.4(SCN4A):c.2020-49G>A rs114409098 0.03315
NM_000334.4(SCN4A):c.3145-164C>T rs73992418 0.03170
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.03148
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_000334.4(SCN4A):c.3720+50C>G rs116306098 0.03046
NM_000334.4(SCN4A):c.3144+141G>A rs16947283 0.03045
NM_000334.4(SCN4A):c.2854-153A>G rs114603084 0.02430
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_000334.4(SCN4A):c.2989+5G>A rs115695396 0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_000334.4(SCN4A):c.2853+30C>T rs116055964 0.01785
NM_000334.4(SCN4A):c.4017+15G>T rs77844100 0.01755
NM_000334.4(SCN4A):c.2854-220C>T rs79040268 0.01711
NM_000334.4(SCN4A):c.3441+102G>A rs8076075 0.01654
NM_000334.4(SCN4A):c.*1677_*1678insAT rs397797581 0.01652
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944 0.01571
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284 0.01359
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000334.4(SCN4A):c.*1696C>G rs367738763 0.00979
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_000334.4(SCN4A):c.3441+7G>A rs142270113 0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=) rs116469710 0.00716
NM_000334.4(SCN4A):c.3775-38G>A rs9899194 0.00398
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NC_000017.11:g.63938510C>A rs73326323
NM_000334.4(SCN4A):c.*1185_*1186insCTGGAGAGCAGAGGCTGTGCCCAG rs11270863
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3] rs112489358
NM_000334.4(SCN4A):c.*1679TG[7] rs66908473
NM_000334.4(SCN4A):c.2989+59G>A rs78492637
NM_000334.4(SCN4A):c.3319-256del rs35533633
NM_000334.4(SCN4A):c.3720+59dup rs58028318
NM_000334.4(SCN4A):c.3913-65dup rs58627885
NM_000334.4(SCN4A):c.4018-118_4018-108del rs531252158
NM_000334.4(SCN4A):c.4018-120_4018-108del rs150461653
NM_000334.4(SCN4A):c.4018-140CT[10] rs111745569
NM_000334.4(SCN4A):c.4018-246_4018-245insAGGGGGTCCCCGGGGAGG rs147283432
NM_000334.4(SCN4A):c.4289-301AC[11] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[12] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[13] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[19] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[21] rs58036769
NM_000334.4(SCN4A):c.4289-301AC[22] rs58036769

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