ClinVar Miner

List of variants in gene PDSS1 reported as uncertain significance for deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
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.686C>G (p.Ser229Cys) rs142182789 0.00045
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.1157A>G (p.Glu386Gly) rs115687408 0.00005
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.1108-7C>G rs367942639 0.00003
NM_014317.5(PDSS1):c.1162A>G (p.Ile388Val) rs749721462 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.218G>A (p.Arg73His) rs759788602 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.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.1027T>C (p.Phe343Leu)
NM_014317.5(PDSS1):c.107C>A (p.Ala36Asp)
NM_014317.5(PDSS1):c.1113T>G (p.Asp371Glu)
NM_014317.5(PDSS1):c.1165A>G (p.Arg389Gly)
NM_014317.5(PDSS1):c.121C>A (p.Arg41Ser)
NM_014317.5(PDSS1):c.1235C>A (p.Thr412Lys)
NM_014317.5(PDSS1):c.129+5G>C
NM_014317.5(PDSS1):c.129+7T>C rs886046934
NM_014317.5(PDSS1):c.129+8T>G
NM_014317.5(PDSS1):c.129+9G>A
NM_014317.5(PDSS1):c.182T>G (p.Val61Gly)
NM_014317.5(PDSS1):c.19C>T (p.Arg7Trp)
NM_014317.5(PDSS1):c.215_221del (p.Cys72fs) rs1564416478
NM_014317.5(PDSS1):c.218G>T (p.Arg73Leu)
NM_014317.5(PDSS1):c.228G>C (p.Arg76=)
NM_014317.5(PDSS1):c.253A>G (p.Lys85Glu)
NM_014317.5(PDSS1):c.291A>G (p.Lys97=)
NM_014317.5(PDSS1):c.294C>A (p.Leu98=)
NM_014317.5(PDSS1):c.430A>G (p.Met144Val)
NM_014317.5(PDSS1):c.437G>A (p.Arg146Gln)
NM_014317.5(PDSS1):c.464C>T (p.Ser155Phe)
NM_014317.5(PDSS1):c.482G>A (p.Ser161Asn)
NM_014317.5(PDSS1):c.484C>G (p.Gln162Glu)
NM_014317.5(PDSS1):c.503T>C (p.Ile168Thr)
NM_014317.5(PDSS1):c.51G>A (p.Ala17=) rs886046932
NM_014317.5(PDSS1):c.520A>G (p.Thr174Ala)
NM_014317.5(PDSS1):c.582A>G (p.Thr194=)
NM_014317.5(PDSS1):c.590A>G (p.Lys197Arg) rs2132259534
NM_014317.5(PDSS1):c.631A>G (p.Ile211Val)
NM_014317.5(PDSS1):c.649A>G (p.Ile217Val)
NM_014317.5(PDSS1):c.651A>G (p.Ile217Met)
NM_014317.5(PDSS1):c.682A>G (p.Ile228Val)
NM_014317.5(PDSS1):c.686C>T (p.Ser229Phe) rs142182789
NM_014317.5(PDSS1):c.718C>T (p.Arg240Cys)
NM_014317.5(PDSS1):c.719G>C (p.Arg240Pro)
NM_014317.5(PDSS1):c.724G>A (p.Glu242Lys)
NM_014317.5(PDSS1):c.79G>T (p.Gly27Cys)
NM_014317.5(PDSS1):c.832-11_832-8del
NM_014317.5(PDSS1):c.832G>A (p.Val278Ile) rs778411730
NM_014317.5(PDSS1):c.851C>T (p.Pro284Leu)
NM_014317.5(PDSS1):c.86C>G (p.Ala29Gly)
NM_014317.5(PDSS1):c.87G>A (p.Ala29=)
NM_014317.5(PDSS1):c.89G>C (p.Gly30Ala) rs17855857
NM_014317.5(PDSS1):c.916A>G (p.Ile306Val)
NM_014317.5(PDSS1):c.94T>A (p.Leu32Met) rs1834912984
NM_014317.5(PDSS1):c.95T>G (p.Leu32Trp)

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