List of variants in gene ABCD4 reported as uncertain significance 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)	rs141868117	0.00150
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)	rs147446660	0.00038
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)	rs139315421	0.00034
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)	rs142696207	0.00029
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_005050.4(ABCD4):c.1529A>G (p.Glu510Gly)	rs752015330	0.00005
NM_005050.4(ABCD4):c.1688A>G (p.Tyr563Cys)	rs145853977	0.00005
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)	rs201100662	0.00001
NM_005050.4(ABCD4):c.1577C>T (p.Pro526Leu)	rs534596852	0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)	rs1349388678	0.00001
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)	rs2139698542
NM_005050.4(ABCD4):c.502C>A (p.Pro168Thr)	rs1057523057
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)

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