List of variants studied for severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_031307.4(PUS3):c.7T>G (p.Tyr3Asp)	rs622756	0.81276
NM_031307.4(PUS3):c.136G>T (p.Ala46Ser)	rs549990	0.66649
NM_031307.4(PUS3):c.1380G>C (p.Glu460Asp)	rs3088241	0.46686
NM_031307.4(PUS3):c.1A>G (p.Met1Val)	rs543614309	0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)	rs761792490	0.00004
NM_031307.4(PUS3):c.1082T>A (p.Met361Lys)	rs779344310	0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)	rs576405108	0.00002
NM_031307.4(PUS3):c.1048C>T (p.Gln350Ter)	rs1023270270	0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)	rs774005569	0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)	rs200876642	0.00001
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)	rs753229591
NM_031307.4(PUS3):c.1225C>T (p.Arg409Cys)
NM_031307.4(PUS3):c.17_18del (p.Thr6fs)	rs1208593429
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)	rs1944570170
NM_031307.4(PUS3):c.438_442del (p.Asn146fs)
NM_031307.4(PUS3):c.476G>A (p.Arg159His)
NM_031307.4(PUS3):c.[497G>A;896T>G]

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