ClinVar Miner

List of variants in gene CTDP1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004715.5(CTDP1):c.1311G>A (p.Pro437=) rs373108713 0.00296
NM_004715.5(CTDP1):c.2274G>A (p.Pro758=) rs140627086 0.00288
NM_004715.5(CTDP1):c.768C>T (p.Ile256=) rs149224075 0.00077
NM_004715.5(CTDP1):c.1194C>T (p.Pro398=) rs372982303 0.00064
NM_004715.5(CTDP1):c.1056C>G (p.Val352=) rs147146455 0.00050
NM_004715.5(CTDP1):c.1626C>T (p.Cys542=) rs141075287 0.00023
NM_004715.5(CTDP1):c.669G>A (p.Thr223=) rs146831211 0.00017
GRCh37/hg19 18q23(chr18:77402721-77482774)x3
NM_004715.5(CTDP1):c.1161C>T (p.Ser387=)
NM_004715.5(CTDP1):c.1341C>A (p.Gly447=)
NM_004715.5(CTDP1):c.1374C>T (p.Ser458=)
NM_004715.5(CTDP1):c.1419C>G (p.Ala473=)
NM_004715.5(CTDP1):c.1638C>T (p.Asn546=)
NM_004715.5(CTDP1):c.168C>G (p.Ala56=) rs1199911775
NM_004715.5(CTDP1):c.1758G>A (p.Glu586=)
NM_004715.5(CTDP1):c.1860G>A (p.Pro620=)
NM_004715.5(CTDP1):c.1998G>A (p.Lys666=)
NM_004715.5(CTDP1):c.2226G>A (p.Ala742=)
NM_004715.5(CTDP1):c.2364G>C (p.Gly788=)
NM_004715.5(CTDP1):c.2421G>A (p.Ala807=)
NM_004715.5(CTDP1):c.280C>T (p.Leu94=)
NM_004715.5(CTDP1):c.48G>A (p.Thr16=)
NM_004715.5(CTDP1):c.78G>C (p.Gly26=) rs777163921
NM_004715.5(CTDP1):c.96G>C (p.Leu32=)

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