List of variants reported as likely pathogenic for Wiedemann-Rautenstrauch-like progeroid syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006907.4(PYCR1):c.633+1G>C	rs144346996	0.00008
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)	rs281875318	0.00007
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)	rs139751598	0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_006907.4(PYCR1):c.540+1G>A	rs752297179	0.00002
NM_006907.4(PYCR1):c.213_214del (p.Lys71fs)	rs1239327109	0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)	rs121918377	0.00001
NM_007055.4(POLR3A):c.3337-5T>A	rs368905417	0.00001
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg)	rs72667007
NM_006907.4(PYCR1):c.220dup (p.Ile74fs)	rs2041157397
NM_006907.4(PYCR1):c.772G>C (p.Val258Leu)	rs2041095858
NM_007055.4(POLR3A):c.3337-1G>A	rs1041175828

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