ClinVar Miner

List of variants in gene PNPLA6 studied for hypogonadotropic hypogonadism

Included ClinVar conditions (102):
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00004
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys) rs587777854 0.00003
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) rs370033046 0.00002
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu) rs541098659 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001166114.2(PNPLA6):c.452G>A (p.Arg151Gln) rs376396266 0.00001
NM_001166114.2(PNPLA6):c.1243dup (p.Asp415fs) rs587777853
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001166114.2(PNPLA6):c.1655A>C (p.Gln552Pro)
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp) rs587777615
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro) rs2023576110
NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)
NM_001166114.2(PNPLA6):c.2185-1G>C rs606231249
NM_001166114.2(PNPLA6):c.2237A>C (p.Gln746Pro) rs2146091582
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.2993A>G (p.Asp998Gly) rs2023847365
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile) rs587777181
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val) rs121434415
NM_001166114.2(PNPLA6):c.3167T>C (p.Phe1056Ser) rs587777183
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu) rs748506175
NM_001166114.2(PNPLA6):c.3358C>T (p.His1120Tyr) rs2023921392
NM_001166114.2(PNPLA6):c.3832A>G (p.Ser1278Gly) rs2146122850
NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs) rs2146123001
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) rs1433313104
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_006702.4(PNPLA6):c.[3242G>T];[3390G>C]

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