ClinVar Miner

List of variants in gene GRHPR reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_012203.1(GRHPR):c.598+1delG rs1554747933
NM_012203.1(GRHPR):c.864_865delTG (p.Val289Aspfs) rs180177321
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
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+1G>T 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>A (p.Glu113Lys) rs180177307
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.404+5G>A rs757796926
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.437_438TG[2] (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056
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.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.735-1G>A rs180177317
NM_012203.2(GRHPR):c.735-2del rs1257080057
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.954del (p.Glu320fs) rs1057516831

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