ClinVar Miner

Variants in gene GRHPR with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
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.102G>A (p.Trp34Ter) rs180177304 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.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
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.493+2T>A rs180177313
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324

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