ClinVar Miner

List of variants studied for perceptual disorders by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser) rs199746225 0.00034
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val) rs117411391 0.00011
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr) rs369742063 0.00002
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) rs751632783 0.00001
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) rs727503062 0.00001
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_007348.4(ATF6):c.1805-2A>C
NM_016239.4(MYO15A):c.6529C>T (p.Arg2177Trp)
NM_016239.4(MYO15A):c.7817G>C (p.Arg2606Pro)
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_178857.6(RP1L1):c.6689C>A (p.Thr2230Asn)

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