ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 2A

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 96
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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.1232G>A (p.Arg411His) rs373727071 0.00016
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.546C>G (p.Phe182Leu) rs80358273 0.00011
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.648C>T (p.Arg216=) rs80358269 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.1502C>T (p.Thr501Ile) rs200391496 0.00002
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met) rs748693577 0.00002
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.2039C>T (p.Ser680Phe) rs772135867 0.00001
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter) rs1648206560 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 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.1044_1051del (p.Ala349Profs) rs797044972
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.140T>C (p.Leu47Pro) rs1271250198
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter) rs1648636515
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) rs80358270
NM_004700.4(KCNQ4):c.1573G>A (p.Asp525Asn)
NM_004700.4(KCNQ4):c.1668C>G (p.Tyr556Ter)
NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.227C>G (p.Ala76Gly)
NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) rs1553165199
NM_004700.4(KCNQ4):c.232A>T (p.Lys78Ter)
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup) rs769859021
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) rs1557977732
NM_004700.4(KCNQ4):c.28G>A (p.Gly10Ser)
NM_004700.4(KCNQ4):c.331A>G (p.Ser111Gly)
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)
NM_004700.4(KCNQ4):c.436G>A (p.Glu146Lys)
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) rs797044965
NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) rs80358274
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) rs80358275
NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) rs1558014576
NM_004700.4(KCNQ4):c.799T>G (p.Phe267Val)
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) rs797044967
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) rs80358276
NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) rs797044968
NM_004700.4(KCNQ4):c.826T>C (p.Trp276Arg) rs2148319465
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004700.4(KCNQ4):c.857A>C (p.Tyr286Ser) rs876657841
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser) rs137853969
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) rs797044969
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) rs797044970
NM_004700.4(KCNQ4):c.882G>A (p.Trp294Ter)
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) rs80358279
NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) rs797044971
c.667_684del(664_681del)

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