ClinVar Miner

List of variants in gene PTCHD1 reported as benign for not provided

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_173495.3(PTCHD1):c.1013-26G>C rs6653680 0.01308
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_173495.3(PTCHD1):c.1013-12C>G rs200934310 0.00095
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) rs138702144 0.00062
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
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.2508T>A (p.Phe836Leu) rs139453757 0.00025
NM_173495.3(PTCHD1):c.1767G>A (p.Glu589=) rs139310513 0.00011
NM_173495.3(PTCHD1):c.203A>G (p.Asn68Ser) rs376309663 0.00010
NM_173495.3(PTCHD1):c.466G>A (p.Val156Ile) rs199597484 0.00004
NM_173495.3(PTCHD1):c.2317T>G (p.Ser773Ala) rs777798588 0.00003
NM_173495.3(PTCHD1):c.2475G>A (p.Arg825=) rs200798672 0.00003
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe) rs762133513 0.00001
NC_000023.11:g.23334788GCC[12] rs879170954
NM_173495.3(PTCHD1):c.*225AC[22] rs34539351
NM_173495.3(PTCHD1):c.*225AC[23] rs34539351
NM_173495.3(PTCHD1):c.*225AC[24] rs34539351
NM_173495.3(PTCHD1):c.*225AC[26] rs34539351
NM_173495.3(PTCHD1):c.*225AC[27] rs34539351
NM_173495.3(PTCHD1):c.*225AC[28] rs34539351
NM_173495.3(PTCHD1):c.1012+269T>G rs5971112
NM_173495.3(PTCHD1):c.352-297C>T rs5925763

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