ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_012203.2(GRHPR):c.252C>A (p.Gly84=)
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393
NM_012203.2(GRHPR):c.493+9C>T rs41303225
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450
NM_012203.2(GRHPR):c.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798
NM_012203.2(GRHPR):c.84-4G>A rs778578725
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266

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