ClinVar Miner

List of variants in gene OTOGL reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3451-20T>A rs11114396 0.19252
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00116
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_001378609.3(OTOGL):c.1395-3T>C rs374833540 0.00038
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 0.00029
NM_001378609.3(OTOGL):c.5728A>T (p.Thr1910Ser) rs370806881 0.00019
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5648G>A (p.Gly1883Asp) rs377364362 0.00014
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys) rs910949216 0.00003
NM_001378609.3(OTOGL):c.3103C>T (p.Gln1035Ter) rs886044647 0.00001
NM_001378609.3(OTOGL):c.3635-2A>G rs1555296476
NM_001378609.3(OTOGL):c.6132A>G (p.Pro2044=) rs1555303628

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