List of variants in gene ABCB6 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	rs149202834	0.00166
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)	rs148211042	0.00073
NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)	rs148458820	0.00014
NM_005689.4(ABCB6):c.1942C>T (p.Arg648Ter)	rs376664522	0.00003
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln)	rs754667801	0.00001
NM_005689.4(ABCB6):c.1690_1691del (p.Met564fs)	rs387906908	0.00001
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr)	rs387906911	0.00001
NM_005689.4(ABCB6):c.1067T>C (p.Leu356Pro)	rs397514756
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)	rs764893806
NM_005689.4(ABCB6):c.1663C>A (p.Gln555Lys)	rs796065353
NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu)	rs397514758
NM_005689.4(ABCB6):c.1985_1986del (p.Leu662fs)	rs387906909
NM_005689.4(ABCB6):c.2256+2T>G	rs1559234527
NM_005689.4(ABCB6):c.2431C>G (p.Leu811Val)	rs387906910
NM_005689.4(ABCB6):c.508A>G (p.Ser170Gly)	rs397514757

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