ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=) rs1791494228 0.00001
NM_000260.4(MYO7A):c.6491del (p.Asn2164fs) rs2135802675
NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro) rs2129316904
NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly) rs2129317522
NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser) rs2129317904
NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr) rs1790889845
NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg) rs2136722469
NM_001384140.1(PCDH15):c.754_755insAA (p.Thr252fs) rs2133652254
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr) rs1959060696
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_022124.6(CDH23):c.2956del (p.Leu986fs) rs2132745856
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) rs397517356
NM_174878.3(CLRN1):c.697T>C (p.Ter233Arg) rs2107927490
NM_194248.3(OTOF):c.1432T>C (p.Trp478Arg)
NM_194248.3(OTOF):c.1912+5G>C rs2148056188
NM_194248.3(OTOF):c.3674C>G (p.Ser1225Cys)
NM_194248.3(OTOF):c.4493T>A (p.Val1498Glu)
NM_194248.3(OTOF):c.5108_5114delinsTCTTCCTGGG (p.Arg1703_Glu1705delinsLeuPheLeuGly) rs2148023717
NM_194248.3(OTOF):c.5360G>A (p.Gly1787Asp) rs2148020419
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) rs2148018483
NM_194248.3(OTOF):c.764A>C (p.Gln255Pro)
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs) rs2102499717

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