ClinVar Miner

List of variants in gene HUWE1 reported as uncertain significance for not specified

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382 0.00050
NM_031407.7(HUWE1):c.147C>T (p.Cys49=) rs149435515 0.00006
NM_031407.7(HUWE1):c.238G>A (p.Val80Ile) rs373104305 0.00003
NM_031407.7(HUWE1):c.957G>T (p.Gln319His) rs782234241 0.00003
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290 0.00002
NM_031407.7(HUWE1):c.1243-8C>T rs781931508 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.9097-6C>T rs781879725 0.00002
NM_031407.7(HUWE1):c.10035+6G>A rs782009073 0.00001
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=) rs782743763 0.00001
NM_031407.7(HUWE1):c.1363A>G (p.Ile455Val) rs1557019212 0.00001
NM_031407.7(HUWE1):c.8682A>G (p.Pro2894=) rs1556930356 0.00001
NM_031407.7(HUWE1):c.10036-7C>T
NM_031407.7(HUWE1):c.10087A>G (p.Ser3363Gly)
NM_031407.7(HUWE1):c.1115A>T (p.Asp372Val) rs797045617
NM_031407.7(HUWE1):c.11215C>G (p.Arg3739Gly) rs2147135304
NM_031407.7(HUWE1):c.12245G>A (p.Arg4082His) rs797045618
NM_031407.7(HUWE1):c.12831+8G>A rs797045619
NM_031407.7(HUWE1):c.1885C>T (p.Arg629Cys) rs797045620
NM_031407.7(HUWE1):c.2056G>A (p.Glu686Lys)
NM_031407.7(HUWE1):c.2866_2876+22dup rs1556993139
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.4310A>T (p.His1437Leu)
NM_031407.7(HUWE1):c.4312A>G (p.Thr1438Ala) rs1064796450
NM_031407.7(HUWE1):c.4441C>A (p.Leu1481Met) rs2148411918
NM_031407.7(HUWE1):c.4637G>C (p.Trp1546Ser) rs864309623
NM_031407.7(HUWE1):c.5108C>T (p.Thr1703Met)
NM_031407.7(HUWE1):c.6301C>G (p.Leu2101Val) rs1556954998
NM_031407.7(HUWE1):c.6399C>T (p.Arg2133=) rs2062734039
NM_031407.7(HUWE1):c.645+1G>T rs797045621
NM_031407.7(HUWE1):c.7597G>A (p.Gly2533Ser) rs2147610748
NM_031407.7(HUWE1):c.7736+9C>T rs1556939479
NM_031407.7(HUWE1):c.816G>C (p.Lys272Asn) rs864309624
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)

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