ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (1198):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) rs757311669 0.00003
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_153700.2(STRC):c.4543C>T (p.Gln1515Ter) rs756606635 0.00001
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000211.5(ITGB2):c.1959_1960insTC (p.Asn654fs) rs1568879914
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_001194998.2(CEP152):c.780del (p.Asn260fs) rs1567024512
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter) rs1565129771
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) rs1562505728
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) rs2134455141
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006642.3:c.1069_1356del
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) rs1559484149
NM_022124.6(CDH23):c.8061C>G (p.Tyr2687Ter) rs1564803868
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) rs1565286202
NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter) rs1485674839
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138694.4(PKHD1):c.1227del (p.Thr410fs) rs1808421350
NM_138694.4(PKHD1):c.6410_6423del (p.Arg2137fs) rs2127663896
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter) rs794727756
NM_144672.4(OTOA):c.2295del (p.Thr766fs) rs774366025
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter) rs2098603169
NM_206933.4(USH2A):c.647T>G (p.Val216Gly) rs1571801514

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