List of variants in gene ABCD4 reported as likely pathogenic for homocystinuria

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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_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)	rs201777056	0.00009
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)	rs1410990711	0.00001
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)	rs745414252
NM_005050.4(ABCD4):c.1457-1G>C
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
NM_005050.4(ABCD4):c.719+2T>G	rs2082518811

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