ClinVar Miner

List of variants reported as likely pathogenic for Ritscher-Schinzel syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NC_000008.10:g.(?_126079753)_(126096155_?)del
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)

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