ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic deafness 2A

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Total variants: 39
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HGVS dbSNP
NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) rs797044972
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) rs80358270
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met)
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) rs55925184
NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) rs772135867
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) rs1553165199
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) rs1557977732
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) rs80358273
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569
NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) rs797044965
NM_004700.4(KCNQ4):c.708+14G>C rs2361660
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468
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.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.827G>C (p.Trp276Ser) rs80358277
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)
NM_004700.4(KCNQ4):c.859G>A (p.Gly287Ser)
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.886G>A (p.Gly296Ser) rs80358279
NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) rs797044971
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710
c.667_684del(664_681del)
c.725G>A

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