ClinVar Miner

List of variants reported as benign for Saethre-Chotzen syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_022970.3(FGFR2):c.*259C>T rs1047057
NM_022970.3(FGFR2):c.*469G>A rs41294351
NM_022970.3(FGFR2):c.-157A>G rs41258305
NM_022970.3(FGFR2):c.-236G>A rs1047111
NM_022970.3(FGFR2):c.-236G>C rs1047111
NM_022970.3(FGFR2):c.-318G>C rs41301547
NM_022970.3(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_022970.3(FGFR2):c.1944C>T (p.Leu648=) rs35337478
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.696A>G (p.Val232=) rs1047100

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