List of variants studied for Hutchinson-Gilford syndrome by GeneReviews

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)	rs150840924	0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)	rs57318642	0.00001
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)	rs267607547
NM_170707.4(LMNA):c.1700_1968+1del	rs1553266460
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)	rs797044486
NM_170707.4(LMNA):c.1821G>A (p.Val607=)	rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)	rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	rs58596362
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser)	rs59267781
NM_170707.4(LMNA):c.1968+1G>A	rs113436208
NM_170707.4(LMNA):c.1968+1G>C	rs113436208
NM_170707.4(LMNA):c.1968+2T>A	rs113860699
NM_170707.4(LMNA):c.1968+2T>C	rs113860699
NM_170707.4(LMNA):c.1968+5G>A	rs797044488
NM_170707.4(LMNA):c.1968+5G>C	rs797044488
NM_170707.4(LMNA):c.1968G>A (p.Gln656=)	rs797044487
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)	rs60310264
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys)	rs797044485

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