ClinVar Miner

List of variants in gene GRHL3 studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln) rs142248927 0.00086
NM_198173.3(GRHL3):c.1172G>A (p.Arg391His) rs1315515436
NM_198173.3(GRHL3):c.1285+2del rs886037770
NM_198173.3(GRHL3):c.22A>G (p.Arg8Gly) rs2148651821
NM_198173.3(GRHL3):c.738C>T (p.Gly246=) rs886037767
NM_198173.3(GRHL3):c.840+1G>T rs886037768
NM_198173.3(GRHL3):c.916dup (p.Arg306fs) rs886037769

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