List of variants in gene combination ABCC6, LOC125146421 reported as uncertain significance for pseudoxanthoma elasticum, forme fruste

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001171.6(ABCC6):c.4391T>C (p.Met1464Thr)	rs774296589	0.00006
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His)	rs57288618	0.00004
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)	rs72547524	0.00001
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys)	rs1030872147	0.00001
NM_001171.6(ABCC6):c.4387G>A (p.Val1463Met)	rs759407080	0.00001
NM_001171.6(ABCC6):c.4370C>T (p.Ala1457Val)
NM_001171.6(ABCC6):c.4402C>T (p.Arg1468Trp)

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