ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive nonsyndromic hearing loss 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492 0.00031
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) rs201090454 0.00022
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742 0.00020
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) rs377330985 0.00013
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln) rs766560083 0.00004
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln) rs200807361 0.00003
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 0.00003
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His) rs764034536 0.00002
NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg) rs770453248 0.00002
NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe) rs939420346 0.00002
NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu) rs374746230 0.00002
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 0.00002
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys) rs1648596230 0.00001
NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr) rs750246232 0.00001
NM_002241.5(KCNJ10):c.250G>A (p.Val84Met) rs140646329 0.00001
NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val) rs751625111 0.00001
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr) rs796052607 0.00001
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695 0.00001
NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg) rs36040296 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp) rs769464065 0.00001
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) rs951259617 0.00001
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val) rs1648629565
NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala) rs17853258
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763
NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg) rs1378425325
NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu) rs1571265205
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070

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