ClinVar Miner

List of variants in gene AMELX, ARHGAP6 studied for X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn)	rs431825177	0.00001
NM_001142.2(AMELX):c.129G>C (p.Gln43His)	rs431825176
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg)	rs431825178

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