List of variants studied for Guttmacher syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000522.5(HOXA13):c.480G>A (p.Ala160=)	rs537218194	0.00504
NM_000522.5(HOXA13):c.46G>A (p.Val16Ile)	rs200676634	0.00010
NM_000522.5(HOXA13):c.499G>T (p.Ala167Ser)	rs752314022	0.00006
NM_000522.5(HOXA13):c.527G>A (p.Ser176Asn)	rs1784060954	0.00001
Multiple alleles
NM_000522.5(HOXA13):c.175C>T (p.Pro59Ser)	rs747262113
NM_000522.5(HOXA13):c.234T>A (p.Ala78=)	rs1308135144
NM_000522.5(HOXA13):c.263G>A (p.Arg88His)	rs1441311870
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)	rs1195806602
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)	rs35861510
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr)	rs34398255

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