List of variants in gene KCNQ4 reported as pathogenic for auditory system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
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.961G>A (p.Gly321Ser)	rs28939710	0.00001
NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs)	rs797044972
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)	rs1271250198
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.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.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.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.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

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