ClinVar Miner

List of variants reported as uncertain significance for Nonsyndromic Hearing Loss, Dominant

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.*2535_*2538dup rs149527616 0.00304
NM_002473.5(MYH9):c.-182G>T rs868824019 0.00179
NM_006005.3(WFS1):c.*366_*369del rs71537671 0.00032
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu) rs139867659 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_001145809.2(MYH14):c.3819C>T (p.Ala1273=) rs750779364 0.00012
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) rs150494393 0.00011
NM_024009.3(GJB3):c.*75del rs1057515478 0.00006
NM_001145809.2(MYH14):c.543C>T (p.Ala181=) rs746669662 0.00004
NM_000260.4(MYO7A):c.-160G>A rs576789908 0.00003
NM_002473.6(MYH9):c.2226C>T (p.Leu742=) rs762499584 0.00003
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338 0.00002
NM_001145809.2(MYH14):c.5C>T (p.Ala2Val) rs750407725 0.00001
NM_002700.3(POU4F3):c.798A>G (p.Pro266=) rs572492254 0.00001
NM_004999.3(MYO6):c.-261G>A rs886061758 0.00001
NM_005379.4(MYO1A):c.522C>T (p.Leu174=) rs561295735 0.00001
NM_005422.4(TECTA):c.1049G>A (p.Arg350Gln) rs137951168 0.00001
NM_005422.4(TECTA):c.1285G>A (p.Val429Met) rs544916783 0.00001
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_001145809.2(MYH14):c.*382TC[12] rs376379600
NM_001145809.2(MYH14):c.*382TC[9] rs376379600
NM_001145809.2(MYH14):c.3207C>G (p.Phe1069Leu) rs886054593
NM_002473.6(MYH9):c.*198dup rs886057475
NM_002473.6(MYH9):c.2632-8_2632-6del rs773975934
NM_002473.6(MYH9):c.519-10del rs754795681
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004086.2(COCH):c.-66C>T rs886050442
NM_004100.5(EYA4):c.*1142del rs886061091
NM_004100.5(EYA4):c.*2479del rs886061095
NM_004100.5(EYA4):c.*737dup rs749389761
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1671+18_1671+19del rs1057515615
NM_004817.4(TJP2):c.2275+24del rs749189119
NM_004817.4(TJP2):c.3408-6dup rs778863371
NM_004999.4(MYO6):c.*1441TAAAT[1] rs886061769
NM_004999.4(MYO6):c.*2029del rs886061771
NM_004999.4(MYO6):c.*2881_*2882del rs397812617
NM_004999.4(MYO6):c.*3473del rs886061777
NM_005379.4(MYO1A):c.-194_-192del rs886049698
NM_005379.4(MYO1A):c.932AAG[1] (p.Glu312del) rs747939115
NM_005422.4(TECTA):c.1694G>A (p.Cys565Tyr) rs886047838
NM_005422.4(TECTA):c.3762G>A (p.Met1254Ile) rs886047842
NM_005982.4(SIX1):c.*1268AT[1] rs3832952
NM_005982.4(SIX1):c.*1571T>C rs886050567
NM_005982.4(SIX1):c.*268CAAA[2] rs886050570
NM_005982.4(SIX1):c.*765_*766del rs33943216
NM_006005.3(WFS1):c.*356_*357insTT rs568320906
NM_006005.3(WFS1):c.*357CTTT[2] rs373643818
NM_006005.3(WFS1):c.*365_*369del rs886059535
NM_006005.3(WFS1):c.*683delinsTGGCTGTGGGGGA rs886059540
NM_006005.3(WFS1):c.*724_*727del rs71537674
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*532del rs935438706
NM_138691.3(TMC1):c.2261-15_2261-14del rs777589679
NM_139319.3(SLC17A8):c.*1496_*1497insT rs886048798
NM_139319.3(SLC17A8):c.*1498_*1499insTT rs886048799
NM_139319.3(SLC17A8):c.*1498dup rs886048799
NM_139319.3(SLC17A8):c.*1501_*1502insGT rs11418303
NM_139319.3(SLC17A8):c.*1513_*1521del rs59689031
NM_139319.3(SLC17A8):c.*1520_*1521dup rs59689031
NM_139319.3(SLC17A8):c.*1521dup rs59689031
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) rs141689561

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