List of variants reported as benign for chromosomal disorder by Mendelics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001211.6(BUB1B):c.2679-97A>G	rs2290551	0.41699
NM_030665.4(RAI1):c.840del (p.Gln280fs)	rs34083643	0.35741
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)	rs644799	0.28044
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)	rs56079734	0.02335
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)	rs41298838	0.00148
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)	rs142415050	0.00063
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)	rs201857437	0.00038
NM_000057.4(BLM):c.114A>G (p.Lys38=)	rs770017301	0.00006
NM_001211.6(BUB1B):c.385-2460_385-2453dup	rs979967281
NM_001378414.1(HDAC4):c.95-98del	rs74761897
NM_004715.5(CTDP1):c.2418-207_2418-165dup	rs147933855
NM_022455.5(NSD1):c.1237-90del	rs11322143
NM_022455.5(NSD1):c.4966+96dup	rs373383515

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