ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Lifecell International Pvt. Ltd

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000320.3(QDPR):c.545+1G>A rs761619802 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663

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