List of variants reported for Schwartz-Jampel syndrome type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys)	rs570850437	0.00014
NM_005529.7(HSPG2):c.11890G>A (p.Gly3964Arg)	rs1339990509	0.00001
NM_005529.7(HSPG2):c.4129C>T (p.Pro1377Ser)	rs759523072	0.00001
NM_005529.7(HSPG2):c.2912C>T (p.Pro971Leu)
NM_005529.7(HSPG2):c.814C>T (p.Pro272Ser)

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