ClinVar Miner

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

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000501.4(ELN):c.1104_1105del (p.Ser369fs)
NM_000501.4(ELN):c.134-16T>C
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486

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