ClinVar Miner

List of variants studied for autosomal recessive disease by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) rs1377749598 0.00003
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) rs773353115 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_001031679.3(MSRB3):c.391-1G>A rs751906778 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
NM_000163.5(GHR):c.267-2A>G rs1757597156
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) rs538178875
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) rs2039037448
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) rs1595163029
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_002906.4(RDX):c.551+2T>C rs1591158999
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_013335.4(GMPPA):c.853+1G>A rs1553624347
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_194248.3(OTOF):c.2443del (p.Gln815fs) rs1558485249
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.4362+1G>C rs1274464930
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs) rs1558472243

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