ClinVar Miner

List of variants in gene GRHPR reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
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.866-2A>G rs200316691 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.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 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.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)
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) rs202022170
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
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.206_214+11del
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.251del (p.Gly84fs)
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
NM_012203.2(GRHPR):c.287+2T>C rs1564297234
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
NM_012203.2(GRHPR):c.288-1G>C
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) rs1823086297
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.404del (p.Asn135fs) rs1057516299
NM_012203.2(GRHPR):c.405-1G>A rs779208888
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
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.457C>T (p.Gln153Ter) rs1341484544
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
NM_012203.2(GRHPR):c.496del (p.Gln166fs) rs1554747871
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
NM_012203.2(GRHPR):c.515del (p.Leu172fs) rs1057516990
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
NM_012203.2(GRHPR):c.589del (p.Ala197fs) rs1564300408
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>A
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
NM_012203.2(GRHPR):c.737dup
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) rs1057516823
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) rs1554748528
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
NM_012203.2(GRHPR):c.83+1G>A
NM_012203.2(GRHPR):c.83+1G>C rs1822898131
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+1del
NM_012203.2(GRHPR):c.865+2T>C
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831

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