ClinVar Miner

List of variants in gene TMEM127 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_017849.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.3(TMEM127):c.124_125del (p.Thr42fs) rs1553437737
NM_017849.3(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.3(TMEM127):c.245-1G>C
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.283del (p.Val95fs) rs1553437028
NM_017849.3(TMEM127):c.337del (p.Leu113fs) rs1558752468
NM_017849.3(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
NM_017849.3(TMEM127):c.469C>T (p.Gln157Ter) rs780133289
NM_017849.3(TMEM127):c.7del (p.Ala3fs) rs1558756727

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