ClinVar Miner

List of variants reported as uncertain significance for auditory system disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) rs201268590 0.00031
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter) rs782783744 0.00002
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) rs140364490 0.00002
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) rs147078785 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) rs782176754
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) rs1957277819
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) rs758884514
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) rs587780274
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys) rs2146338775
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) rs1465371108
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) rs762612501
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_031475.2(ESPN):c.2339_2341delAGG rs1399633263
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) rs2148048891
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)

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