ClinVar Miner

List of variants in gene HRG studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) rs1042464 0.56537
NM_000412.5(HRG):c.610C>T (p.Pro204Ser) rs9898 0.42622
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) rs1042445 0.27106
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) rs114895145 0.00315
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) rs148593044 0.00019
NM_000412.5(HRG):c.62C>T (p.Pro21Leu) rs141595547 0.00005
NM_000412.5(HRG):c.736C>A (p.Pro246Thr) rs780950869 0.00001
NM_000412.5(HRG):c.946C>T (p.Pro316Ser) rs903824710 0.00001
C223R
NM_000412.5(HRG):c.1015A>G (p.Arg339Gly)
NM_000412.5(HRG):c.1194_1196del (p.His400del)
NM_000412.5(HRG):c.745C>T (p.His249Tyr) rs2108584875
NM_000412.5(HRG):c.796G>A (p.Gly266Ser)

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