ClinVar Miner

List of variants studied for autosomal anomaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
NM_078480.3(PUF60):c.297+9C>T rs1028726810 0.00004
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala) rs782205353 0.00001
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) rs1553242966 0.00001
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) rs1205547665 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs) rs1794880739
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs) rs1832698457
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) rs1716385543
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter) rs1665711818
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.700+17G>A rs1689356095
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter) rs1688736712
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu) rs1574645369
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) rs1681469923
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) rs1681472341
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) rs1029755113
NM_002397.5(MEF2C):c.965-2A>G rs1759968705
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) rs1711880083
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu) rs1762710997
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr) rs2095343853
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter) rs1763344725
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs) rs1765615038
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe) rs1319472971
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) rs1756273326
NM_144997.7(FLCN):c.49dup (p.Arg17fs) rs758385503

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