ClinVar Miner

Variants in gene GRHPR with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) rs369339903 0.00025
NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr) rs113602485 0.00016
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_012203.2(GRHPR):c.380C>T (p.Pro127Leu) rs763052360 0.00010
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_012203.2(GRHPR):c.84-4G>A rs778578725 0.00006
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) rs771231175 0.00001
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450

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