ClinVar Miner

List of variants reported as benign for autosomal dominant nonsyndromic hearing loss 2A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004700.4(KCNQ4):c.708+14G>C rs2361660 0.66283
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852 0.16898
NM_004700.4(KCNQ4):c.315-18C>T rs13374844 0.15526
NM_004700.4(KCNQ4):c.315-16C>T rs13374845 0.15351
NM_004700.4(KCNQ4):c.873G>A (p.Pro291=) rs12117176 0.07614
NM_004700.4(KCNQ4):c.879A>G (p.Thr293=) rs12143503 0.07598
NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=) rs55964611 0.03837
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=) rs55737429 0.03713
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) rs55925184 0.03211
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu) rs139835231 0.00103
NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=) rs191631836 0.00103
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=) rs137896524 0.00085
NM_004700.4(KCNQ4):c.946-12C>G rs146802754 0.00041
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr) rs142453905 0.00016
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005

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