ClinVar Miner

List of variants in gene PTCHD1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=) rs138439272 0.00046
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) rs146777271 0.00046
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=) rs369975097 0.00032
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) rs147324438 0.00027
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089 0.00002
NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser) rs765424375 0.00002
NM_173495.3(PTCHD1):c.1751G>A (p.Arg584Gln) rs1420215253 0.00001
NM_173495.3(PTCHD1):c.2535A>G (p.Ile845Met) rs1310794737 0.00001
GRCh37/hg19 Xp22.11(chrX:23352993-23412302)x0
NM_173495.3(PTCHD1):c.105C>G (p.Ile35Met)
NM_173495.3(PTCHD1):c.1290C>A (p.Tyr430Ter) rs1922871430
NM_173495.3(PTCHD1):c.1496A>G (p.Tyr499Cys)
NM_173495.3(PTCHD1):c.2519C>G (p.Ala840Gly) rs2146653128
NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)
NM_173495.3(PTCHD1):c.592C>T (p.His198Tyr) rs1655451720
NM_173495.3(PTCHD1):c.801A>C (p.Val267=)
NM_173495.3(PTCHD1):c.855G>A (p.Leu285=)

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