List of variants in gene GRHPR reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_012203.2(GRHPR):c.734+1G>A	rs148049120	0.00006
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)	rs180177323	0.00003
NM_012203.2(GRHPR):c.735-1G>A	rs180177317	0.00002
NM_012203.2(GRHPR):c.404+5G>A	rs757796926	0.00001
NM_012203.2(GRHPR):c.735-2del	rs1257080057	0.00001
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)	rs369698939	0.00001
NM_012203.2(GRHPR):c.865+1G>T	rs771990662	0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)	rs180177322	0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)	rs1331106064	0.00001
NM_012203.2(GRHPR):c.-4_-3delinsAT	rs796052077
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)	rs2489231890
NM_012203.2(GRHPR):c.154del (p.Ala52fs)	rs751101495
NM_012203.2(GRHPR):c.214+2T>G	rs1057517398
NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu)
NM_012203.2(GRHPR):c.494-2A>G	rs1823266560
NM_012203.2(GRHPR):c.516_532dup (p.Gln178fs)	rs2489243051
NM_012203.2(GRHPR):c.597del (p.Phe199fs)	rs1057516292
NM_012203.2(GRHPR):c.61del (p.Val21fs)
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)	rs1554748534
NM_012203.2(GRHPR):c.951_969del (p.Arg318fs)
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)	rs1554749672

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