ClinVar Miner

List of variants studied for X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_182680.1(AMELX):c.171G>C (p.Gln57His) rs431825176
NM_182680.1(AMELX):c.173G>A (p.Ser58Asn) rs431825177
NM_182680.1(AMELX):c.174C>A (p.Ser58Arg) rs431825178
NM_198488.4(FAM83H):c.2250C>T (p.Gly750=) rs431825179
NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu) rs431825180
NM_198488.4(FAM83H):c.2766C>T (p.Arg922=) rs431825181

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