ClinVar Miner

List of variants in gene PAX3 reported as benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839
NM_181458.4(PAX3):c.1174-10G>C rs2855268
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857
NM_181458.4(PAX3):c.1420+104G>A rs142988099
NM_181458.4(PAX3):c.1420+186G>A
NM_181458.4(PAX3):c.1420+220C>T rs45624434
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092
NM_181458.4(PAX3):c.321+10C>A rs140960868
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675

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