ClinVar Miner

List of variants in gene G6PC3, LOC130060959 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_138387.4(G6PC3):c.189C>T (p.Ile63=) rs144594971 0.00092
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr) rs140585667 0.00006
NM_138387.4(G6PC3):c.169G>A (p.Val57Met) rs150477295 0.00006
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) rs1191239079 0.00003
NM_138387.4(G6PC3):c.59C>T (p.Ala20Val) rs777505318 0.00003
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138387.4(G6PC3):c.132C>T (p.Pro44=) rs200427598 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.218+1G>A rs772298089 0.00001
NM_138387.4(G6PC3):c.101A>T (p.Asp34Val) rs2049968647
NM_138387.4(G6PC3):c.105C>A (p.Pro35=)
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln) rs2144135194
NM_138387.4(G6PC3):c.108G>A (p.Lys36=)
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) rs1157699874
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
NM_138387.4(G6PC3):c.129C>T (p.Phe43=)
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
NM_138387.4(G6PC3):c.138C>T (p.Ala46=)
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter) rs118203970
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) rs1417784733
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)
NM_138387.4(G6PC3):c.147C>T (p.Ala49=)
NM_138387.4(G6PC3):c.153C>G (p.Arg51=) rs761215881
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
NM_138387.4(G6PC3):c.165C>T (p.Ile55=)
NM_138387.4(G6PC3):c.168G>T (p.Ala56=)
NM_138387.4(G6PC3):c.171G>A (p.Val57=)
NM_138387.4(G6PC3):c.171G>T (p.Val57=) rs759787635
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg) rs752966267
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) rs2144135656
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) rs34878178
NM_138387.4(G6PC3):c.192C>T (p.Thr64=) rs780837377
NM_138387.4(G6PC3):c.199_218+1del rs1597905369
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)
NM_138387.4(G6PC3):c.207C>G (p.Leu69=)
NM_138387.4(G6PC3):c.207C>T (p.Leu69=)
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
NM_138387.4(G6PC3):c.213C>T (p.Phe71=) rs1392954032
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
NM_138387.4(G6PC3):c.218+14G>C
NM_138387.4(G6PC3):c.218+16C>T
NM_138387.4(G6PC3):c.218+17del
NM_138387.4(G6PC3):c.218+18T>C
NM_138387.4(G6PC3):c.218+20C>T
NM_138387.4(G6PC3):c.218+2T>C
NM_138387.4(G6PC3):c.218+8A>G
NM_138387.4(G6PC3):c.218+9G>C
NM_138387.4(G6PC3):c.57A>G (p.Leu19=)
NM_138387.4(G6PC3):c.60C>G (p.Ala20=)
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.81C>G (p.Leu27=)
NM_138387.4(G6PC3):c.81C>T (p.Leu27=) rs1324312988
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) rs2144135089
NM_138387.4(G6PC3):c.87C>A (p.Ile29=)
NM_138387.4(G6PC3):c.90C>T (p.Thr30=)
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) rs1448628053
NM_138387.4(G6PC3):c.99C>A (p.Gly33=)
NM_138387.4(G6PC3):c.99C>T (p.Gly33=)

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