List of variants reported as likely pathogenic by King Laboratory, University of Washington

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.*239C>T	rs113516368	0.00237
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)	rs2920791	0.00174
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	rs111033243	0.00083
NM_001378609.3(OTOGL):c.6019+5G>A	rs368712763	0.00046
NM_000441.2(SLC26A4):c.-4+5G>A	rs727503425	0.00006
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser)	rs371730430	0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	rs780987516	0.00006
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val)	rs759274321	0.00004
NM_153700.2(STRC):c.3794C>T (p.Pro1265Leu)	rs371994634	0.00004
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys)	rs781916427	0.00003
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)	rs781214034	0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)	rs754786373	0.00003
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)	rs747656448	0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)	rs759360026	0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)	rs749798053	0.00002
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)	rs778251205	0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)	rs770665588	0.00002
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)	rs781688103	0.00002
NM_000260.4(MYO7A):c.1545G>T (p.Lys515Asn)	rs782313585	0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)	rs1385324903	0.00001
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)	rs747095250	0.00001
NM_001039213.4(CEACAM16):c.1097C>T (p.Pro366Leu)	rs762367899	0.00001
NM_001195263.2(PDZD7):c.928+1G>A	rs778565403	0.00001
NM_001354604.2(MITF):c.355-1062G>C	rs1236436555	0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)	rs374997012	0.00001
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn)	rs772953914	0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	rs397517349	0.00001
NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)	rs868979094
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)	rs797044492
NM_000260.4(MYO7A):c.2187+1G>T	rs111033290
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)	rs1555090196
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)	rs727503329
NM_000260.4(MYO7A):c.5552T>C (p.Leu1851Pro)
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)	rs142527052
NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)
NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)	rs1409565648
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	rs121908365
NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)
NM_001122659.3(EDNRB):c.801+2T>C	rs2137610838
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=)	rs774544844
NM_001256317.3(TMPRSS3):c.1328T>C (p.Ile443Thr)
NM_001256317.3(TMPRSS3):c.188T>G (p.Leu63Arg)
NM_001256317.3(TMPRSS3):c.818G>T (p.Gly273Val)
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
NM_001277269.2(OTOG):c.7517-5_7518dup	rs1295062471
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
NM_001378609.3(OTOGL):c.4600+1G>T
NM_001384140.1(PCDH15):c.1178C>T (p.Pro393Leu)
NM_001384140.1(PCDH15):c.417C>G (p.Asp139Glu)	rs2134714388
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.6182+1G>T	rs200375658
NM_001384474.1(LOXHD1):c.6342-1G>A
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr)	rs2143775617
NM_002906.4(RDX):c.513_514del (p.Arg171fs)	rs2134364635
NM_003672.4(CDC14A):c.50-1G>T	rs2100872719
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu)
NM_004999.4(MYO6):c.188-1G>T
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln)	rs2149367858
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp)	rs1060499799
NM_005982.4(SIX1):c.397_399del (p.Glu133del)	rs80356460
NM_015340.4(LARS2):c.457A>C (p.Asn153His)	rs786205560
NM_016239.4(MYO15A):c.10351-15T>G
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
NM_020982.4(CLDN9):c.500dup (p.Trp168fs)	rs1567404609
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)	rs1060499791
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)	rs1060499792
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)	rs2132751512
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	rs876657754
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)	rs1060499789
NM_022124.6(CDH23):c.683A>T (p.Asp228Val)	rs1060499788
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr)	rs2132985083
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)	rs1060499790
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
NM_022482.5(GZF1):c.1216_1219dup (p.His407fs)	rs1227208547
NM_031475.3(ESPN):c.1972G>A (p.Glu658Lys)
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)	rs1060499795
NM_032119.4(ADGRV1):c.14315C>A (p.Ser4772Ter)	rs1561740143
NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)	rs1060499796
NM_080680.3(COL11A2):c.3080G>A (p.Gly1027Glu)	rs2150548120
NM_080680.3(COL11A2):c.3852+1G>T
NM_138691.3(TMC1):c.1532C>A (p.Pro511His)	rs727503483
NM_138691.3(TMC1):c.1763+1G>T	rs2118284330
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	rs727504599
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)
NM_153676.4(USH1C):c.104+5G>C	rs2133927984
NM_153700.2(STRC):c.1469T>C (p.Leu490Pro)
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)	rs2106203892
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	rs1060499810
NM_194248.3(OTOF):c.1912+1G>C
NM_194248.3(OTOF):c.5714G>A (p.Gly1905Asp)
NM_194248.3(OTOF):c.897+5G>C

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