List of variants studied for Wolfram syndrome by New York Genome Center

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		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)	rs144840779	0.00050
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	rs199946797	0.00035
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val)	rs200058166	0.00030
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)	rs71539657	0.00028
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	rs71530923	0.00013
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	rs760256649	0.00006
NM_006005.3(WFS1):c.631+4C>T	rs377209257	0.00005
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro)	rs369656458	0.00003
NM_006005.3(WFS1):c.176C>T (p.Ala59Val)	rs71524365	0.00002
NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys)	rs1038816435	0.00001
NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu)	rs375880230	0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr)	rs537052067	0.00001
NM_006005.3(WFS1):c.158G>C (p.Gly53Ala)	rs2109108045
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser)	rs1578611960
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp)	rs373310972
NM_006005.3(WFS1):c.578dup (p.Gln194fs)	rs779272128

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