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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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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.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.1595+271C>T	rs886061376	0.00010
NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met)	rs572438037	0.00006
NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=)	rs139173161	0.00006
NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu)	rs143843185	0.00006
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.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
NM_001374623.1(PNPLA1):c.962G>A (p.Arg321Lys)	rs886061375

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