ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_000091.4:c.1900G>A;c.1927G>A
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) rs1554095500
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) rs1570504754
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) rs1715589813
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875

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