List of variants in gene WASHC5 reported as benign for Ritscher-Schinzel syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_014846.4(WASHC5):c.2770+18_2770+19insG	rs11370883	0.99994
NM_014846.4(WASHC5):c.979-20C>T	rs12546285	0.18463
NM_014846.4(WASHC5):c.187-3C>T	rs16900368	0.13363
NM_014846.4(WASHC5):c.417+11A>G	rs2384917	0.13320
NM_014846.4(WASHC5):c.1764+12A>G	rs3765213	0.11313
NM_014846.4(WASHC5):c.186+17G>A	rs59134934	0.03280
NM_014846.4(WASHC5):c.1408+7A>G	rs16900312	0.02845
NM_014846.4(WASHC5):c.1151-8G>A	rs16900335	0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=)	rs10429323	0.02837
NM_014846.4(WASHC5):c.597A>G (p.Pro199=)	rs7812319	0.02380
NM_014846.4(WASHC5):c.867A>C (p.Val289=)	rs79464415	0.00491
NM_014846.4(WASHC5):c.2100G>A (p.Val700=)	rs148936723	0.00357
NM_014846.4(WASHC5):c.2771-7T>C	rs142685897	0.00181
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=)	rs140063111	0.00156
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=)	rs80242901	0.00128
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys)	rs143719918	0.00127
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln)	rs202165114	0.00108
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg)	rs142423043	0.00086
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=)	rs140523354	0.00083
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=)	rs143654828	0.00080
NM_014846.4(WASHC5):c.732G>A (p.Pro244=)	rs146320386	0.00079
NM_014846.4(WASHC5):c.2668-19C>T	rs368313044	0.00038
NM_014846.4(WASHC5):c.12T>C (p.Phe4=)	rs202120400	0.00028
NM_014846.4(WASHC5):c.2199+4C>A	rs145721086	0.00016
NM_014846.4(WASHC5):c.418-9T>G	rs760094704	0.00009
NM_014846.4(WASHC5):c.187-6dup	rs745362878
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.333-19A>G	rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=)	rs758215702

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