ClinVar Miner

List of variants studied for autosomal recessive disease by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter) rs758210528 0.00001
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs) rs780281715 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.796+5G>A rs1272619479 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
GRCh38/hg38 2q13(chr2:110091573-110205023)
GRCh38/hg38 2q13(chr2:110091573-110212811)
NC_000007.14:g.26263639_26335651delinsCA
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.731-2A>G rs752216720
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=) rs148851444
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys) rs2141225644
NM_000070.3(CAPN3):c.2439+1G>T
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) rs1749618632
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp) rs2144563979
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser) rs2141317422
NM_000138.5:c.(1468+1_1469-1)_(1837+1_1838-1)del
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr) rs2106933976
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918
NM_000163.5(GHR):c.267-1155_333del
NM_000163.5(GHR):c.70+5G>A rs2112477601
NM_000232.5(SGCB):c.3G>T (p.Met1Ile) rs2109380946
NM_000277.3(PAH):c.210del (p.Arg71fs) rs2136701994
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His) rs2126702600
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2848del (p.His950fs) rs2116062196
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_001017420.3(ESCO2):c.1673+1G>A rs2128957692
NM_001083961.2(WDR62):c.659A>G (p.His220Arg) rs2145586826
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001127649.3(PEX26):c.34del (p.Leu12fs) rs61752129
NM_001128178.3(NPHP1):c.1352+5G>A rs1681080526
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.5621del (p.Met1874fs) rs2152956005
NM_001160372.4(TRAPPC9):c.2699+1G>A rs2131922149
NM_001205254.2(OCLN):c.52_891del (p.Lys18_Trp297del)
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs) rs773887880
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)
NM_001371596.2(MFSD8):c.699-1G>A rs1739594685
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg) rs2116630442
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) rs1473197986
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) rs375759781
NM_004426.3(PHC1):c.100C>T (p.Arg34Ter) rs2137054010
NM_004813.4(PEX16):c.952+3A>G
NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter) rs769512832
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
NM_005807.6(PRG4):c.1134dup (p.Lys379fs)
NM_005807.6(PRG4):c.1699del (p.Glu567fs)
NM_005807.6(PRG4):c.1935del (p.Glu646fs) rs2102025845
NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn) rs1657192119
NM_005807.6(PRG4):c.962T>A (p.Leu321Ter) rs2102020754
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) rs2145048931
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) rs2086687936
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_012233.3(RAB3GAP1):c.2290-17_2290del
NM_014797.3(ZBTB24):c.953-2A>G
NM_015189.1:c.2122+15447_2197-59588del
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.[1273dup];[35dup]
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) rs1401777461
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del) rs2103862688
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) rs1557733597
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
NM_025074.7(FRAS1):c.3293-2A>T rs2110319166
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter) rs1561416879
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp) rs2135652409
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_144596.4(TTC8):c.265+5G>A rs2094770219
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del) rs886041062
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)
NM_147127.5(EVC2):c.1639del (p.Ser547fs) rs2108851441
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs) rs2118054723
NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter) rs2134706418
NM_203486.3(DLL3):c.871-1G>A rs2144761828

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