ClinVar Miner

List of variants studied for deafness-encephaloneuropathy-obesity-valvulopathy syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014317.5(PDSS1):c.*76C>T rs12776877 0.13025
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857 0.02444
NM_001012750.3(ABI1):c.*1940A>C rs1046187 0.02265
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_001012750.3(ABI1):c.*1833T>A rs144623506 0.00283
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.*47A>G rs200899328 0.00009
NM_014317.5(PDSS1):c.488G>A (p.Arg163His) rs780198984 0.00004
NM_014317.5(PDSS1):c.1108-7C>G rs367942639 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_001012750.3(ABI1):c.*1950T>C rs1836943381 0.00001
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.279C>T (p.Thr93=) rs779303490 0.00001
NM_014317.5(PDSS1):c.592A>G (p.Ile198Val) rs1408544618 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_001012750.3(ABI1):c.*1835A>G rs886046937
NM_014317.5(PDSS1):c.129+7T>C rs886046934
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.686C>T (p.Ser229Phe) rs142182789

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