List of variants in gene GRHPR reported as likely pathogenic by Counsyl

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_012203.2(GRHPR):c.735-1G>A	rs180177317	0.00002
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)	rs180177304	0.00001
NM_012203.2(GRHPR):c.214+1G>T	rs1244822375	0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)	rs180177307	0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)	rs771019056	0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)	rs180177314	0.00001
NM_012203.2(GRHPR):c.735-2del	rs1257080057	0.00001
NM_012203.2(GRHPR):c.154del (p.Ala52fs)	rs751101495
NM_012203.2(GRHPR):c.188_189del (p.Val63fs)	rs1554746565
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)	rs1554746094
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu)	rs1554746094
NM_012203.2(GRHPR):c.214+1G>C	rs1244822375
NM_012203.2(GRHPR):c.214+2T>G	rs1057517398
NM_012203.2(GRHPR):c.215-2_215-1del	rs1554746793
NM_012203.2(GRHPR):c.228dup (p.Val77fs)	rs1057517238
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)	rs1554746097
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)	rs180177307
NM_012203.2(GRHPR):c.404del (p.Asn135fs)	rs1057516299
NM_012203.2(GRHPR):c.405-1G>A	rs779208888
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs)	rs1057517333
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)	rs1057517026
NM_012203.2(GRHPR):c.493+2T>A	rs180177313
NM_012203.2(GRHPR):c.496del (p.Gln166fs)	rs1554747871
NM_012203.2(GRHPR):c.515del (p.Leu172fs)	rs1057516990
NM_012203.2(GRHPR):c.597del (p.Phe199fs)	rs1057516292
NM_012203.2(GRHPR):c.598+1G>T	rs111256477
NM_012203.2(GRHPR):c.598+1del	rs1554747933
NM_012203.2(GRHPR):c.599-1G>C	rs1422977131
NM_012203.2(GRHPR):c.755dup (p.Asp252fs)	rs1057516823
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)	rs1554748528
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)	rs1554748534
NM_012203.2(GRHPR):c.849dup (p.Thr284fs)	rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs)	rs1554748598
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)	rs180177321
NM_012203.2(GRHPR):c.954del (p.Glu320fs)	rs1057516831

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