ClinVar Miner

List of variants in gene HERC2 reported as uncertain significance for developmental delay with autism spectrum disorder and gait instability

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr) rs146558015 0.00137
NM_004667.6(HERC2):c.1012T>G (p.Leu338Val) rs61754656 0.00123
NM_004667.6(HERC2):c.8179G>C (p.Asp2727His) rs140671115 0.00101
NM_004667.6(HERC2):c.2747-3C>A rs200632307 0.00076
NM_004667.6(HERC2):c.6385C>T (p.Arg2129Cys) rs138059246 0.00070
NM_004667.6(HERC2):c.2766C>G (p.Asn922Lys) rs139868155 0.00039
NM_004667.6(HERC2):c.233A>G (p.Asp78Gly) rs140630729 0.00025
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr) rs145535698 0.00024
NM_004667.6(HERC2):c.9992C>T (p.Thr3331Met) rs140440992 0.00024
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) rs138177581 0.00023
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val) rs184647895 0.00014
NM_004667.6(HERC2):c.187+153G>A rs530793191 0.00011
NM_004667.6(HERC2):c.8305C>T (p.Arg2769Cys) rs141210218 0.00010
NM_004667.6(HERC2):c.14498G>A (p.Gly4833Glu) rs141739498 0.00009
NM_004667.6(HERC2):c.1411C>T (p.Arg471Cys) rs768897624 0.00006
NM_004667.6(HERC2):c.2627C>T (p.Ala876Val) rs149493788 0.00006
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) rs368463146 0.00005
NM_004667.6(HERC2):c.8509G>A (p.Val2837Ile) rs752233283 0.00005
NM_004667.6(HERC2):c.13034C>T (p.Ala4345Val) rs150956191 0.00004
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) rs149338352 0.00004
NM_004667.6(HERC2):c.254A>G (p.Glu85Gly) rs765598082 0.00004
NM_004667.6(HERC2):c.9179C>T (p.Thr3060Met) rs778326297 0.00004
NM_004667.6(HERC2):c.4370T>C (p.Leu1457Ser) rs774619391 0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_004667.6(HERC2):c.2236C>T (p.Arg746Cys) rs1043175459 0.00002
NM_004667.6(HERC2):c.3421A>G (p.Ile1141Val) rs753743625 0.00002
NM_004667.6(HERC2):c.8461C>T (p.Arg2821Cys) rs772066142 0.00002
NM_004667.6(HERC2):c.10840G>A (p.Val3614Met) rs1344102518 0.00001
NM_004667.6(HERC2):c.11716C>T (p.Arg3906Cys) rs770688775 0.00001
NM_004667.6(HERC2):c.2602A>G (p.Thr868Ala) rs759776491 0.00001
NM_004667.6(HERC2):c.3071T>C (p.Val1024Ala) rs777481301 0.00001
NM_004667.6(HERC2):c.3596A>G (p.Gln1199Arg) rs751326087 0.00001
NM_004667.6(HERC2):c.5795C>T (p.Pro1932Leu) rs776444137 0.00001
NM_004667.6(HERC2):c.6262G>A (p.Glu2088Lys) rs370318976 0.00001
NM_004667.6(HERC2):c.6730G>A (p.Val2244Met) rs761892834 0.00001
NM_004667.6(HERC2):c.10456C>G (p.Pro3486Ala) rs1894296633
NM_004667.6(HERC2):c.10711G>T (p.Ala3571Ser) rs370009597
NM_004667.6(HERC2):c.10855C>T (p.Pro3619Ser) rs1411659283
NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala) rs2142241769
NM_004667.6(HERC2):c.12599T>C (p.Val4200Ala) rs1890001963
NM_004667.6(HERC2):c.12943G>A (p.Ala4315Thr) rs765243004
NM_004667.6(HERC2):c.13135G>A (p.Gly4379Arg) rs777881619
NM_004667.6(HERC2):c.13374C>G (p.Ser4458Arg) rs1328574737
NM_004667.6(HERC2):c.13438G>A (p.Gly4480Ser) rs2142056746
NM_004667.6(HERC2):c.13531T>G (p.Ser4511Ala)
NM_004667.6(HERC2):c.13709_13710del (p.Ala4570fs) rs1888123522
NM_004667.6(HERC2):c.13861C>T (p.His4621Tyr) rs1888024356
NM_004667.6(HERC2):c.4043C>T (p.Thr1348Ile) rs1902187565
NM_004667.6(HERC2):c.4154G>A (p.Gly1385Glu) rs1310381539
NM_004667.6(HERC2):c.4342G>A (p.Glu1448Lys) rs1902120163
NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe) rs780527731
NM_004667.6(HERC2):c.5315C>T (p.Pro1772Leu)
NM_004667.6(HERC2):c.5355C>G (p.Phe1785Leu)
NM_004667.6(HERC2):c.5774A>G (p.Asp1925Gly)
NM_004667.6(HERC2):c.5841C>G (p.Asp1947Glu) rs1900404659
NM_004667.6(HERC2):c.5872C>G (p.His1958Asp) rs1900185109
NM_004667.6(HERC2):c.599C>T (p.Ala200Val)
NM_004667.6(HERC2):c.6287T>C (p.Leu2096Pro) rs1596251854
NM_004667.6(HERC2):c.6335C>T (p.Ser2112Phe) rs542163867
NM_004667.6(HERC2):c.7745C>T (p.Ala2582Val)
NM_004667.6(HERC2):c.8024A>G (p.Asn2675Ser)
NM_004667.6(HERC2):c.8614G>C (p.Asp2872His) rs1896805805
NM_004667.6(HERC2):c.8820C>G (p.Ser2940Arg) rs140556070
NM_004667.6(HERC2):c.9113A>G (p.Gln3038Arg)
NM_004667.6(HERC2):c.958G>A (p.Gly320Arg)
NM_004667.6(HERC2):c.9638G>A (p.Gly3213Glu) rs1596133088

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