ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met) rs767795351 0.00011
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) rs781335672 0.00002
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919 0.00002
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) rs758680191 0.00002
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val) rs755433765 0.00001
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met) rs377393431 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val) rs756239485
NM_000329.3(RPE65):c.644-5T>A rs2100819923
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001080414.4(CCDC88C):c.161+5G>A rs1887078001
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr) rs2104107559
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
NM_001384140.1(PCDH15):c.4671+1393G>C
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) rs1561894798
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.9380+5G>C
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) rs1469032409
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689

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