List of variants in gene ABCB6 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	rs150221689	0.00303
NM_005689.4(ABCB6):c.376del (p.Val126fs)	rs377591749	0.00033
NM_005689.4(ABCB6):c.1119G>A (p.Ala373=)	rs752219177	0.00001
NM_005689.4(ABCB6):c.1276+7G>A
NM_005689.4(ABCB6):c.1452+4A>G
NM_005689.4(ABCB6):c.1863+8G>C
NM_005689.4(ABCB6):c.2314G>T (p.Val772Phe)
NM_005689.4(ABCB6):c.649C>A (p.Gln217Lys)
NM_005689.4(ABCB6):c.683G>A (p.Ser228Asn)
NM_005689.4(ABCB6):c.867T>C (p.Ile289=)

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