ClinVar Miner

List of variants in gene HUWE1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.9010T>C (p.Ser3004Pro) rs782367962 0.00009
NM_031407.7(HUWE1):c.6283A>C (p.Thr2095Pro) rs960157635 0.00008
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr) rs782773400 0.00005
NM_031407.7(HUWE1):c.1869G>C (p.Gln623His) rs149955783 0.00003
NM_031407.7(HUWE1):c.238G>A (p.Val80Ile) rs373104305 0.00003
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110 0.00003
NM_031407.7(HUWE1):c.4824+3G>A rs1168856558 0.00003
NM_031407.7(HUWE1):c.6293A>T (p.Gln2098Leu) rs782694197 0.00003
NM_031407.7(HUWE1):c.4423G>C (p.Asp1475His) rs782205349 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.2653C>T (p.Leu885Phe) rs368371869 0.00001
NM_031407.7(HUWE1):c.3520C>G (p.Leu1174Val) rs782356520 0.00001
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met) rs782222601 0.00001
NM_031407.7(HUWE1):c.5840A>G (p.Tyr1947Cys) rs1483703467 0.00001
NM_031407.7(HUWE1):c.6632A>G (p.Asn2211Ser) rs797044958 0.00001
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn) rs782531338 0.00001
NM_031407.7(HUWE1):c.10265C>G (p.Ser3422Cys)
NM_031407.7(HUWE1):c.10461_10469del (p.3488STT[1])
NM_031407.7(HUWE1):c.10502C>T (p.Thr3501Met) rs782741075
NM_031407.7(HUWE1):c.10504C>T (p.Pro3502Ser)
NM_031407.7(HUWE1):c.10546G>A (p.Ala3516Thr)
NM_031407.7(HUWE1):c.10810G>A (p.Val3604Ile)
NM_031407.7(HUWE1):c.10834G>T (p.Asp3612Tyr) rs2061546347
NM_031407.7(HUWE1):c.11320G>A (p.Ala3774Thr)
NM_031407.7(HUWE1):c.11528A>C (p.Glu3843Ala)
NM_031407.7(HUWE1):c.11633-4C>G
NM_031407.7(HUWE1):c.1175A>G (p.His392Arg) rs2066673392
NM_031407.7(HUWE1):c.11992C>T (p.Arg3998Cys)
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12197A>G (p.Tyr4066Cys)
NM_031407.7(HUWE1):c.12436A>G (p.Met4146Val) rs2061057437
NM_031407.7(HUWE1):c.12880G>A (p.Ala4294Thr) rs1556909408
NM_031407.7(HUWE1):c.13070G>A (p.Arg4357His) rs2060850988
NM_031407.7(HUWE1):c.1522C>G (p.Leu508Val)
NM_031407.7(HUWE1):c.1663T>C (p.Phe555Leu)
NM_031407.7(HUWE1):c.1941_1943del (p.Arg647del) rs2065843330
NM_031407.7(HUWE1):c.2029G>A (p.Ala677Thr)
NM_031407.7(HUWE1):c.2078G>A (p.Arg693Lys)
NM_031407.7(HUWE1):c.2119G>A (p.Ala707Thr)
NM_031407.7(HUWE1):c.2579G>A (p.Arg860His) rs879987940
NM_031407.7(HUWE1):c.311T>C (p.Ile104Thr) rs781888452
NM_031407.7(HUWE1):c.3424C>A (p.Leu1142Met)
NM_031407.7(HUWE1):c.4192-4C>T
NM_031407.7(HUWE1):c.4324A>G (p.Thr1442Ala)
NM_031407.7(HUWE1):c.4333C>T (p.Pro1445Ser)
NM_031407.7(HUWE1):c.4394T>G (p.Ile1465Ser)
NM_031407.7(HUWE1):c.464A>G (p.Lys155Arg)
NM_031407.7(HUWE1):c.493C>T (p.His165Tyr)
NM_031407.7(HUWE1):c.4940C>T (p.Thr1647Ile)
NM_031407.7(HUWE1):c.5060G>A (p.Arg1687Gln)
NM_031407.7(HUWE1):c.5168C>T (p.Pro1723Leu)
NM_031407.7(HUWE1):c.5594G>C (p.Arg1865Pro)
NM_031407.7(HUWE1):c.5603A>G (p.Asn1868Ser)
NM_031407.7(HUWE1):c.5716+6T>A
NM_031407.7(HUWE1):c.5809G>C (p.Val1937Leu) rs139776182
NM_031407.7(HUWE1):c.6016G>A (p.Gly2006Ser)
NM_031407.7(HUWE1):c.6068C>T (p.Thr2023Ile)
NM_031407.7(HUWE1):c.634A>G (p.Ile212Val)
NM_031407.7(HUWE1):c.6448G>T (p.Val2150Leu)
NM_031407.7(HUWE1):c.6620A>G (p.Asn2207Ser)
NM_031407.7(HUWE1):c.8008G>A (p.Val2670Ile)
NM_031407.7(HUWE1):c.8078G>A (p.Arg2693His)
NM_031407.7(HUWE1):c.8189C>T (p.Thr2730Ile)
NM_031407.7(HUWE1):c.8392A>C (p.Thr2798Pro) rs781986018
NM_031407.7(HUWE1):c.8422G>A (p.Glu2808Lys) rs1569433944
NM_031407.7(HUWE1):c.8504C>A (p.Ser2835Tyr)
NM_031407.7(HUWE1):c.8599T>G (p.Leu2867Val)
NM_031407.7(HUWE1):c.8631_8654del (p.Glu2881_Ser2888del)
NM_031407.7(HUWE1):c.8636G>A (p.Ser2879Asn)
NM_031407.7(HUWE1):c.8862AGA[2] (p.Glu2956del)
NM_031407.7(HUWE1):c.9097-5C>T
NM_031407.7(HUWE1):c.9397C>T (p.Arg3133Cys)
NM_031407.7(HUWE1):c.9459C>G (p.Phe3153Leu)
NM_031407.7(HUWE1):c.9800G>T (p.Arg3267Leu)
NM_031407.7(HUWE1):c.9922G>T (p.Gly3308Trp)

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