ClinVar Miner

List of variants reported as likely benign for Goldmann-Favre syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.747+9C>T rs375935703 0.00036
NM_014249.4(NR2E3):c.843C>T (p.Pro281=) rs555211505 0.00009
NM_014249.4(NR2E3):c.449C>T (p.Pro150Leu) rs777140312 0.00005
NM_014249.4(NR2E3):c.245+9G>A rs538864090 0.00003
NM_014249.4(NR2E3):c.768G>A (p.Ala256=) rs1448837236 0.00003
NM_014249.4(NR2E3):c.672G>A (p.Ser224=) rs530684859 0.00002
NM_014249.4(NR2E3):c.123G>A (p.Val41=) rs555860015 0.00001
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile) rs534156309 0.00001
NM_014249.4(NR2E3):c.349+12del rs886051451

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