ClinVar Miner

List of variants in gene PNPLA2 studied for Inborn genetic diseases

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.1364C>A (p.Pro455Gln) rs187668158 0.00224
NM_020376.4(PNPLA2):c.1327C>G (p.Leu443Val) rs182948893 0.00210
NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu) rs201177082 0.00059
NM_020376.4(PNPLA2):c.1217C>T (p.Pro406Leu) rs370098225 0.00025
NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr) rs374358848 0.00011
NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly) rs765640246 0.00011
NM_020376.4(PNPLA2):c.283C>T (p.Arg95Cys) rs143443756 0.00010
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) rs373114735 0.00009
NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp) rs371871714 0.00009
NM_020376.4(PNPLA2):c.844G>A (p.Ala282Thr) rs146739862 0.00009
NM_020376.4(PNPLA2):c.803G>A (p.Arg268His) rs774382796 0.00005
NM_020376.4(PNPLA2):c.1484C>A (p.Ala495Asp) rs761924298 0.00003
NM_020376.4(PNPLA2):c.359G>A (p.Arg120His) rs750269327 0.00002
NM_020376.4(PNPLA2):c.425A>G (p.Asn142Ser) rs758738508 0.00002
NM_020376.4(PNPLA2):c.628A>G (p.Thr210Ala) rs769139952 0.00002
NM_020376.4(PNPLA2):c.785T>G (p.Leu262Arg) rs778402032 0.00002
NM_020376.4(PNPLA2):c.808C>A (p.His270Asn) rs772809304 0.00002
NM_020376.4(PNPLA2):c.1258C>T (p.Pro420Ser) rs1186629172 0.00001
NM_020376.4(PNPLA2):c.1260C>T (p.Pro420=) rs986337866 0.00001
NM_020376.4(PNPLA2):c.1316G>A (p.Cys439Tyr) rs766730036 0.00001
NM_020376.4(PNPLA2):c.1339C>T (p.Leu447Phe) rs769822451 0.00001
NM_020376.4(PNPLA2):c.1421C>G (p.Pro474Arg) rs1278507202 0.00001
NM_020376.4(PNPLA2):c.1439A>G (p.Gln480Arg) rs781550456 0.00001
NM_020376.4(PNPLA2):c.400T>C (p.Ser134Pro) rs2495553762 0.00001
NM_020376.4(PNPLA2):c.448G>A (p.Val150Met) rs745927123 0.00001
NM_020376.4(PNPLA2):c.527A>G (p.Tyr176Cys) rs141014055 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020376.4(PNPLA2):c.822C>G (p.Asp274Glu) rs752158626 0.00001
NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly) rs772421048 0.00001
NM_020376.4(PNPLA2):c.953T>C (p.Leu318Pro) rs775075567 0.00001
NM_020376.4(PNPLA2):c.1139G>A (p.Arg380His) rs372164277
NM_020376.4(PNPLA2):c.1150A>C (p.Lys384Gln) rs1385840827
NM_020376.4(PNPLA2):c.1226C>G (p.Pro409Arg) rs549863849
NM_020376.4(PNPLA2):c.1240G>A (p.Ala414Thr) rs905195009
NM_020376.4(PNPLA2):c.1244A>G (p.Tyr415Cys) rs370827824
NM_020376.4(PNPLA2):c.1336G>C (p.Gly446Arg) rs368507289
NM_020376.4(PNPLA2):c.1358C>T (p.Ala453Val) rs2495568553
NM_020376.4(PNPLA2):c.1396G>C (p.Asp466His)
NM_020376.4(PNPLA2):c.1457C>A (p.Pro486His) rs1274843840
NM_020376.4(PNPLA2):c.1481A>T (p.Glu494Val)
NM_020376.4(PNPLA2):c.361G>A (p.Val121Met)
NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys) rs772999318
NM_020376.4(PNPLA2):c.488G>A (p.Arg163His) rs746987189
NM_020376.4(PNPLA2):c.563C>T (p.Ser188Leu)
NM_020376.4(PNPLA2):c.635T>C (p.Ile212Thr)
NM_020376.4(PNPLA2):c.697G>A (p.Val233Met) rs142852995
NM_020376.4(PNPLA2):c.752G>A (p.Arg251Gln) rs988744471
NM_020376.4(PNPLA2):c.752G>C (p.Arg251Pro) rs988744471
NM_020376.4(PNPLA2):c.791T>C (p.Leu264Ser)
NM_020376.4(PNPLA2):c.871C>T (p.Pro291Ser) rs774103876
NM_020376.4(PNPLA2):c.875G>A (p.Gly292Glu) rs748465075
NM_020376.4(PNPLA2):c.904G>A (p.Ala302Thr) rs1200522708
NM_020376.4(PNPLA2):c.973A>C (p.Met325Leu) rs761266261

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