ClinVar Miner

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

Included ClinVar conditions (891):
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Gene type:
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Total variants: 29
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HGVS dbSNP
NG_008135.1:g.[8888_8892delins7465_7744;8897_8910dup] rs1554746962
NM_012203.1(GRHPR):c.-4_-3delGCinsAT rs796052077
NM_012203.1(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
NM_012203.1(GRHPR):c.103delG (p.Asp35Thrfs) rs80356708
NM_012203.1(GRHPR):c.203T>C (p.Leu68Pro) rs180177305
NM_012203.1(GRHPR):c.248_249delTG (p.Val83Glyfs) rs672601351
NM_012203.1(GRHPR):c.287G>T (p.Arg96Leu) rs796052078
NM_012203.1(GRHPR):c.288-2_288delAGT rs796052081
NM_012203.1(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_012203.1(GRHPR):c.337G>A (p.Glu113Lys) rs180177307
NM_012203.1(GRHPR):c.375delG (p.Leu126Cysfs) rs180177308
NM_012203.1(GRHPR):c.404+3_404+6delAAGT rs180177309
NM_012203.1(GRHPR):c.45delA (p.Ala17Profs) rs180177311
NM_012203.1(GRHPR):c.478G>A (p.Gly160Arg) rs180177312
NM_012203.1(GRHPR):c.493+2T>A rs180177313
NM_012203.1(GRHPR):c.494G>A (p.Gly165Asp) rs180177314
NM_012203.1(GRHPR):c.540delT (p.Leu181Cysfs) rs180177315
NM_012203.1(GRHPR):c.608_609delCT (p.Pro203Argfs) rs180177316
NM_012203.1(GRHPR):c.694delC (p.Gln232Argfs) rs796052082
NM_012203.1(GRHPR):c.735-1G>A rs180177317
NM_012203.1(GRHPR):c.743T>A (p.Val248Asp) rs796052079
NM_012203.1(GRHPR):c.84-2A>G rs180177319
NM_012203.1(GRHPR):c.864_865delTG (p.Val289Aspfs) rs180177321
NM_012203.1(GRHPR):c.904C>T (p.Arg302Cys) rs180177322
NM_012203.1(GRHPR):c.905G>A (p.Arg302His) rs180177323
NM_012203.1(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.1(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.1(GRHPR):c.965T>G (p.Met322Arg) rs180177325
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]

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