List of variants in gene ALX4 reported as pathogenic for bone disorder

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln)	rs104894193	0.00001
NM_021926.4(ALX4):c.291del (p.Gln98fs)	rs869320717
NM_021926.4(ALX4):c.385_394del (p.Cys129fs)	rs387906325
NM_021926.4(ALX4):c.418C>T (p.Gln140Ter)	rs104894191
NM_021926.4(ALX4):c.503del (p.Pro168fs)	rs876657391
NM_021926.4(ALX4):c.504del (p.Asp169fs)	rs587776614
NM_021926.4(ALX4):c.620C>A (p.Ser207Ter)	rs104894197
NM_021926.4(ALX4):c.646C>G (p.Arg216Gly)	rs587777700
NM_021926.4(ALX4):c.673C>G (p.Gln225Glu)	rs587777701
NM_021926.4(ALX4):c.736C>T (p.Gln246Ter)	rs104894192
NM_021926.4(ALX4):c.793C>T (p.Arg265Ter)	rs267606653
NM_021926.4(ALX4):c.815G>C (p.Arg272Pro)	rs104894196
NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs)	rs587777702

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