ClinVar Miner

List of variants in gene PNPLA1 reported as uncertain significance for autosomal recessive congenital ichthyosis 10

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.1595+640G>A rs137961117 0.00484
NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) rs141744967 0.00072
NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) rs770164167 0.00024
NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly) rs371888522 0.00021
NM_001374623.1(PNPLA1):c.1595+414C>T rs886061377 0.00019
NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) rs767322248 0.00014
NM_001374623.1(PNPLA1):c.1595+622G>A rs535470541 0.00014
NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=) rs185312959 0.00014
NM_001374623.1(PNPLA1):c.813T>A (p.Ile271=) rs201231660 0.00014
NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu) rs143843185 0.00014
NM_001374623.1(PNPLA1):c.439-7C>T rs373711651 0.00012
NM_001374623.1(PNPLA1):c.1420G>A (p.Ala474Thr) rs139909055 0.00011
NM_001374623.1(PNPLA1):c.1062T>G (p.Pro354=) rs761075511 0.00010
NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=) rs139173161 0.00004
NM_001374623.1(PNPLA1):c.934A>G (p.Lys312Glu) rs199548644 0.00004
NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) rs371283191 0.00003
NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) rs181087505 0.00003
NM_001374623.1(PNPLA1):c.438+10C>T rs886061373 0.00002
NM_001374623.1(PNPLA1):c.955G>A (p.Asp319Asn) rs182227800 0.00002
NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) rs1327123712 0.00001
NM_001374623.1(PNPLA1):c.1469+10C>G rs373131816 0.00001
NM_001374623.1(PNPLA1):c.1595+550A>G rs373548589 0.00001
NM_001374623.1(PNPLA1):c.1595+842C>T rs759813381 0.00001
NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) rs749816424 0.00001
NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=) rs886061374 0.00001
NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) rs1231123861 0.00001
NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) rs1771089963
NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) rs1771090642
NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)
NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) rs375901638
NM_001374623.1(PNPLA1):c.1595+777A>T rs1212752036
NM_001374623.1(PNPLA1):c.205+5G>A rs1561853887
NM_001374623.1(PNPLA1):c.212A>G (p.Tyr71Cys)
NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) rs1561864099
NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) rs141261965
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) rs1554137705
NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) rs140585347
NM_001374623.1(PNPLA1):c.439-6G>A rs201125928
NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr)
NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) rs748310345
NM_001374623.1(PNPLA1):c.715-10C>T rs1770824903
NM_001374623.1(PNPLA1):c.889C>T (p.Leu297Phe) rs752011907

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