ClinVar Miner

List of variants in gene PITRM1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe) rs71477812 0.00759
NM_014889.4(PITRM1):c.1271G>A (p.Arg424Gln) rs115840214 0.00324
NM_014889.4(PITRM1):c.1533C>T (p.His511=) rs201227300 0.00177
NM_014889.4(PITRM1):c.2223C>T (p.Ser741=) rs191395257 0.00106
NM_014889.4(PITRM1):c.1824C>T (p.Pro608=) rs370041089 0.00098
NM_014889.4(PITRM1):c.3006G>A (p.Leu1002=) rs199806295 0.00056
NM_014889.4(PITRM1):c.2202G>A (p.Gly734=) rs375154884 0.00011
NM_014889.4(PITRM1):c.2196C>T (p.Pro732=) rs568221543 0.00004
NM_014889.4(PITRM1):c.1209C>T (p.Thr403=)
NM_014889.4(PITRM1):c.1962C>T (p.Pro654=)
NM_014889.4(PITRM1):c.223A>C (p.Arg75=)
NM_014889.4(PITRM1):c.2277A>G (p.Lys759=)
NM_014889.4(PITRM1):c.2292G>A (p.Lys764=)
NM_014889.4(PITRM1):c.2442C>T (p.Arg814=)
NM_014889.4(PITRM1):c.2604A>C (p.Glu868Asp)
NM_014889.4(PITRM1):c.2886C>T (p.Thr962=)
NM_014889.4(PITRM1):c.2901C>T (p.Val967=)
NM_014889.4(PITRM1):c.819A>G (p.Leu273=)
NM_014889.4(PITRM1):c.95G>A (p.Arg32Gln)

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