ClinVar Miner

List of variants in gene PDSS1 studied for Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_014317.5(PDSS1):c.609+46A>G rs1780196 0.88595
NM_014317.5(PDSS1):c.130-46T>C rs1780186 0.65133
NM_014317.5(PDSS1):c.130-23del rs71403882 0.61230
NM_014317.5(PDSS1):c.336+22G>A rs1748356 0.52543
NM_014317.5(PDSS1):c.467+42G>C rs2368183 0.27040
NM_014317.5(PDSS1):c.*76C>T rs12776877 0.13025
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857 0.02444
NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys) rs77826284 0.00516
NM_014317.5(PDSS1):c.162+13A>G rs12571799 0.00410
NM_014317.5(PDSS1):c.*3A>G rs115180525 0.00350
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_014317.5(PDSS1):c.130-10G>T rs551306397 0.00099
NM_014317.5(PDSS1):c.1027-11T>C rs142244210 0.00084
NM_014317.5(PDSS1):c.411A>G (p.Arg137=) rs114640034 0.00083
NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys) rs142182789 0.00045
NM_014317.5(PDSS1):c.130-18T>C rs375014698 0.00031
NM_014317.5(PDSS1):c.467+9T>G rs202187965 0.00026
NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln) rs376818531 0.00017
NM_014317.5(PDSS1):c.243C>T (p.Thr81=) rs762902803 0.00016
NM_014317.5(PDSS1):c.719G>A (p.Arg240His) rs140972175 0.00014
NM_014317.5(PDSS1):c.*47A>G rs200899328 0.00009
NM_014317.5(PDSS1):c.553G>A (p.Asp185Asn) rs144149122 0.00007
NM_014317.5(PDSS1):c.1032A>G (p.Pro344=) rs200147190 0.00006
NM_014317.5(PDSS1):c.488G>A (p.Arg163His) rs780198984 0.00004
NM_014317.5(PDSS1):c.955A>G (p.Met319Val) rs754654692 0.00004
NM_014317.5(PDSS1):c.987C>T (p.Leu329=) rs769755433 0.00004
NM_014317.5(PDSS1):c.1108-7C>G rs367942639 0.00003
NM_014317.5(PDSS1):c.1162A>G (p.Ile388Val) rs749721462 0.00003
NM_014317.5(PDSS1):c.426G>A (p.Ala142=) rs149274703 0.00003
NM_014317.5(PDSS1):c.860T>C (p.Val287Ala) rs367783149 0.00003
NM_014317.5(PDSS1):c.*40T>C rs201474044 0.00002
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) rs763915931 0.00002
NM_014317.5(PDSS1):c.859G>A (p.Val287Met) rs768568415 0.00002
NM_014317.5(PDSS1):c.999T>C (p.Thr333=) rs141586424 0.00002
NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile) rs752338178 0.00001
NM_014317.5(PDSS1):c.163-12T>C rs776345851 0.00001
NM_014317.5(PDSS1):c.227+10C>T rs778136255 0.00001
NM_014317.5(PDSS1):c.270A>T (p.Glu90Asp) rs147126048 0.00001
NM_014317.5(PDSS1):c.279C>T (p.Thr93=) rs779303490 0.00001
NM_014317.5(PDSS1):c.296G>T (p.Gly99Val) rs777579681 0.00001
NM_014317.5(PDSS1):c.592A>G (p.Ile198Val) rs1408544618 0.00001
NM_014317.5(PDSS1):c.70G>C (p.Gly24Arg) rs1002908038 0.00001
NM_014317.5(PDSS1):c.802G>A (p.Ala268Thr) rs767397399 0.00001
NM_014317.5(PDSS1):c.941C>T (p.Ser314Leu) rs766516366 0.00001
NM_014317.5(PDSS1):c.97G>A (p.Gly33Arg) rs886046933 0.00001
NM_014317.5(PDSS1):c.988G>A (p.Gly330Arg) rs773085493 0.00001
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg) rs1057519354
NM_014317.5(PDSS1):c.1164_1165del (p.Ile388fs) rs1425736863
NM_014317.5(PDSS1):c.1183C>T (p.Arg395Ter)
NM_014317.5(PDSS1):c.129+7T>C rs886046934
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_014317.5(PDSS1):c.173_174insA (p.Ile58_Asn59insTer)
NM_014317.5(PDSS1):c.215_221del (p.Cys72fs) rs1564416478
NM_014317.5(PDSS1):c.51G>A (p.Ala17=) rs886046932
NM_014317.5(PDSS1):c.590A>G (p.Lys197Arg) rs2132259534
NM_014317.5(PDSS1):c.661C>T (p.Arg221Ter)
NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs) rs1057519353
NM_014317.5(PDSS1):c.686C>T (p.Ser229Phe) rs142182789
NM_014317.5(PDSS1):c.716T>G (p.Val239Gly)
NM_014317.5(PDSS1):c.735G>T (p.Gln245His)
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu) rs119463988
NM_014317.5(PDSS1):c.94T>A (p.Leu32Met) rs1834912984

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