List of variants in gene CPLANE1 reported as pathogenic by GeneDx

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)	rs374144275	0.00019
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)	rs606231259	0.00007
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)	rs530569572	0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)	rs139675596	0.00006
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)	rs755097302	0.00004
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val)	rs891693382	0.00004
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)	rs863225163	0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)	rs141507441	0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)	rs150242262	0.00004
NM_001384732.1(CPLANE1):c.8792+1G>T	rs886041757	0.00003
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)	rs766699868	0.00002
NM_001384732.1(CPLANE1):c.3673-1G>C	rs886041688	0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	rs749523755	0.00001
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter)	rs863225155	0.00001
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	rs777686211
NM_001384732.1(CPLANE1):c.3150-1G>T	rs606231258
NM_001384732.1(CPLANE1):c.3380C>A (p.Ser1127Ter)	rs375009168
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)	rs141153181
NM_001384732.1(CPLANE1):c.57G>A (p.Trp19Ter)	rs886041966
NM_001384732.1(CPLANE1):c.677+2T>C	rs886041870
NM_001384732.1(CPLANE1):c.702G>A (p.Trp234Ter)	rs1554114025
NM_001384732.1(CPLANE1):c.7079del (p.Pro2360fs)	rs1085307795
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)	rs730882217
NM_001384732.1(CPLANE1):c.8633-1G>C	rs1561376123
NM_001384732.1(CPLANE1):c.8672_8678delinsAT (p.Val2891fs)	rs1064796131

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