ClinVar Miner

List of variants reported as likely benign for autosomal recessive disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687 0.00842
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser) rs200781463 0.00113
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=) rs1671904168
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837

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