ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 2A by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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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.1188C>T (p.Pro396=) rs189541861 0.00222
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
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.465A>C (p.Gly155=) rs145129529 0.00082
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=) rs144810195 0.00041
NM_004700.4(KCNQ4):c.946-12C>G rs146802754 0.00041
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00026
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) rs144434662 0.00025
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=) rs568177070 0.00023
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr) rs142453905 0.00016
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) rs147751558 0.00016
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=) rs140945833 0.00010
NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu) rs775420649 0.00009
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=) rs552843990 0.00009
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr) rs200053059 0.00007
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp) rs535365858 0.00005
NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His) rs201025485 0.00005
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu) rs1016512710 0.00002
NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln) rs551509351 0.00001
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu) rs887762794 0.00001
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His) rs371301199 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly) rs368294870
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter) rs1648636515
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup) rs769859021
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278

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